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Hugo Moser - Publications

Affiliations: 
Kennedy Krieger Institute, Baltimore, MD, United States 
Area:
Pediatric neurology, leukodystrophies
Website:
http://www.kennedykrieger.org/kki_staff.jsp?pid=1841
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19/386 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2009 Smith SA, Golay X, Fatemi A, Mahmood A, Raymond GV, Moser HW, van Zijl PC, Stanisz GJ. Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: application to adrenomyeloneuropathy. Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine. 61: 22-7. PMID 19097204 DOI: 10.1002/Mrm.21827  0.486
2007 Eichler F, Mahmood A, Loes D, Bezman L, Lin D, Moser HW, Raymond GV. Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. Archives of Neurology. 64: 659-64. PMID 17502464 DOI: 10.1001/Archneur.64.5.659  0.577
2005 Dubey P, Fatemi A, Huang H, Nagae-Poetscher L, Wakana S, Barker PB, van Zijl P, Moser HW, Mori S, Raymond GV. Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. Annals of Neurology. 58: 758-66. PMID 16240348 DOI: 10.1002/Ana.20643  0.546
2005 Smith SA, Golay X, Fatemi A, Jones CK, Raymond GV, Moser HW, van Zijl PC. Magnetization transfer weighted imaging in the upper cervical spinal cord using cerebrospinal fluid as intersubject normalization reference (MTCSF imaging). Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine. 54: 201-6. PMID 15968676 DOI: 10.1002/Mrm.20553  0.48
2005 Fatemi A, Smith SA, Dubey P, Zackowski KM, Bastian AJ, van Zijl PC, Moser HW, Raymond GV, Golay X. Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology. 64: 1739-45. PMID 15911801 DOI: 10.1212/01.Wnl.0000164458.02141.06  0.506
2005 Dubey P, Fatemi A, Barker PB, Degaonkar M, Troeger M, Zackowski K, Bastian A, Smith SA, Pomper MG, Moser HW, Raymond GV. Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy. Neurology. 64: 304-10. PMID 15668429 DOI: 10.1212/01.Wnl.0000149514.13580.84  0.497
2004 Moser H, Dubey P, Fatemi A. Progress in X-linked adrenoleukodystrophy. Current Opinion in Neurology. 17: 263-9. PMID 15167059 DOI: 10.1097/00019052-200406000-00005  0.438
2004 Moser HW, Fatemi A, Zackowski K, Smith S, Golay X, Muenz L, Raymond G. Evaluation of therapy of X-linked adrenoleukodystrophy. Neurochemical Research. 29: 1003-16. PMID 15139299 DOI: 10.1023/B:Nere.0000021245.12181.90  0.426
2003 Pizzini F, Fatemi AS, Barker PB, Nagae-Poetscher LM, Horská A, Zimmerman AW, Moser HW, Bibat G, Naidu S. Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. Ajnr. American Journal of Neuroradiology. 24: 1683-9. PMID 13679292  0.469
2003 Loes DJ, Fatemi A, Melhem ER, Gupte N, Bezman L, Moser HW, Raymond GV. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 61: 369-74. PMID 12913200 DOI: 10.1212/01.Wnl.0000079050.91337.83  0.489
2003 Fatemi A, Barker PB, UluÄŸ AM, Nagae-Poetscher LM, Beauchamp NJ, Moser AB, Raymond GV, Moser HW, Naidu S. MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy. Neurology. 60: 1301-7. PMID 12707433 DOI: 10.1212/01.Wnl.0000059546.15529.Cb  0.543
2002 Eichler FS, Itoh R, Barker PB, Mori S, Garrett ES, van Zijl PC, Moser HW, Raymond GV, Melhem ER. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology. 225: 245-52. PMID 12355012 DOI: 10.1148/Radiol.2251011040  0.576
2002 Eichler FS, Barker PB, Cox C, Edwin D, Ulug AM, Moser HW, Raymond GV. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology. 58: 901-7. PMID 11914405 DOI: 10.1212/Wnl.58.6.901  0.576
2001 Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology. 56: 544-7. PMID 11222805 DOI: 10.1212/Wnl.56.4.544  0.55
2001 Ingeholm ML, Levine BA, Eichler F, Tu H, Jimenez-Sanchez G, Moser H. A multi-center clinical trial using next generation internet technology Proceedings of Spie - the International Society For Optical Engineering. 4323: 151-158. DOI: 10.1117/12.435470  0.443
1978 Itoyama Y, Sternberger N, Quarles R, Webster HD, Richardson EP, Cohen S, Moser HW. Successful immunocytochemical localization of myelin components in paraffin sections of human nervous tissue with preliminary observations on multiple sclerosis and metachromatic leukodystrophy lesions. Transactions of the American Neurological Association. 103: 216-9. PMID 92845  0.51
1969 Moser HW, Prensky AL, Wolfe HJ, Rosman NP. Farber's lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. The American Journal of Medicine. 47: 869-90. PMID 5395479 DOI: 10.1016/0002-9343(69)90202-2  0.494
1968 Prensky AL, Wolfe HJ, Rosman NP, Moser HW. Biochemical and histochemical studies of a case of Farber's lipogranulomatosis. Journal of Neuropathology and Experimental Neurology. 27: 144. PMID 5656562  0.451
1966 Benton JW, Moser HW, Dodge PR, Carr S. Modification of the schedule of myelination in the rat by early nutritional deprivation. Pediatrics. 38: 801-7. PMID 5954221  0.493
Low-probability matches (unlikely to be authored by this person)
2001 van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Annals of Neurology. 49: 186-94. PMID 11220738  0.271
1996 Melhem ER, Breiter SN, Ulug AM, Raymond GV, Moser HW. Improved tissue characterization in adrenoleukodystrophy using magnetization transfer imaging. Ajr. American Journal of Roentgenology. 166: 689-95. PMID 8623652 DOI: 10.2214/ajr.166.3.8623652  0.263
2000 Moser HW, Loes DJ, Melhem ER, Raymond GV, Bezman L, Cox CS, Lu SE. X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics. 31: 227-39. PMID 11204280 DOI: 10.1055/S-2000-9236  0.253
2000 Moser HW, Bezman L, Lu SE, Raymond GV. Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials. Journal of Inherited Metabolic Disease. 23: 273-7. PMID 10863943 DOI: 10.1023/A:1005688130338  0.25
2001 Melhem ER, Gotwald TF, Itoh R, Zinreich SJ, Moser HW. T2 relaxation measurements in X-linked adrenoleukodystrophy performed using dual-echo fast fluid-attenuated inversion recovery MR imaging. Ajnr. American Journal of Neuroradiology. 22: 773-6. PMID 11290498  0.247
1994 Kruse B, Barker PB, van Zijl PC, Duyn JH, Moonen CT, Moser HW. Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy. Annals of Neurology. 36: 595-608. PMID 7944292 DOI: 10.1002/ana.410360408  0.244
2004 Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T, Grewal SS, Orchard PJ, Abel SL, Goldman AI, Ramsay NK, Dusenbery KE, Loes DJ, Lockman LA, Kato S, ... ... Moser HW, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood. 104: 881-8. PMID 15073029 DOI: 10.1182/blood-2003-10-3402  0.241
1992 Theda C, Moser AB, Powers JM, Moser HW. Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination. Journal of the Neurological Sciences. 110: 195-204. PMID 1506859  0.24
1989 Casanova MF, Goldberg TE, Naidu S, Khoromi S, Kumar A, Weinberger DR, Moser HW. Quantitative analysis of magnetic resonance imaging in retts syndrome Biological Psychiatry. 25: A64. DOI: 10.1016/0006-3223(89)91616-8  0.233
2000 Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. Ajnr. American Journal of Neuroradiology. 21: 839-44. PMID 10815658  0.232
2005 Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Archives of Neurology. 62: 1073-80. PMID 16009761 DOI: 10.1001/archneur.62.7.1073  0.222
1992 Moser HW, Moser AB, Smith KD, Bergin A, Borel J, Shankroff J, Stine OC, Merette C, Ott J, Krivit W. Adrenoleukodystrophy: phenotypic variability and implications for therapy. Journal of Inherited Metabolic Disease. 15: 645-64. PMID 1528023 DOI: 10.1007/Bf01799621  0.221
1991 Casanova MF, Naidu S, Goldberg TE, Moser HW, Khoromi S, Kumar A, Kleinman JE, Weinberger DR. Quantitative magnetic resonance imaging in Rett syndrome. The Journal of Neuropsychiatry and Clinical Neurosciences. 3: 66-72. PMID 7580176 DOI: 10.1176/Jnp.3.1.66  0.213
1996 Edwin D, Speedie LJ, Kohler W, Naidu S, Kruse B, Moser HW. Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy. Annals of Neurology. 40: 675-8. PMID 8871589 DOI: 10.1002/ana.410400419  0.212
1991 Moser HW, Moser AB, Naidu S, Bergin A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Developmental Neuroscience. 13: 254-61. PMID 1817030  0.207
1984 Chemke J, Lieberman E, Carmi R, Abarbanel Y, Costeff H, Goldhammer Y, Moser HW. Adrenoleukodystrophy in Israel: a genetic, clinical and biochemical study. Israel Journal of Medical Sciences. 20: 1123-32. PMID 6097565  0.207
2007 Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV. "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. Journal of Molecular Neuroscience : Mn. 33: 105-13. PMID 17901554  0.202
1986 Kelley RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackai EH, Moser HW. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. American Journal of Medical Genetics. 23: 869-901. PMID 3515938 DOI: 10.1002/Ajmg.1320230404  0.199
1994 Kornfeld M, Moser AB, Moser HW, Kleinschmidt-DeMasters B, Nolte K, Phelps A. Solvent vapor abuse leukoencephalopathy. Comparison to adrenoleukodystrophy. Journal of Neuropathology and Experimental Neurology. 53: 389-98. PMID 8021713 DOI: 10.1097/00005072-199407000-00011  0.198
2001 Naidu S, Kaufmann WE, Abrams MT, Pearlson GD, Lanham DC, Fredericksen KA, Barker PB, Horska A, Golay X, Mori S, Wong DF, Yablonski M, Moser HW, Johnston MV. Neuroimaging studies in Rett syndrome. Brain & Development. 23: S62-71. PMID 11738844 DOI: 10.1016/S0387-7604(01)00381-3  0.196
2007 Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nature Clinical Practice. Neurology. 3: 140-51. PMID 17342190 DOI: 10.1038/ncpneuro0421  0.196
1991 Edwin D, Speedie L, Naidu S, Moser H. Cognitive impairment in adult-onset adrenoleukodystrophy. Molecular and Chemical Neuropathology. 12: 167-76. PMID 2091665 DOI: 10.1007/BF03159942  0.196
1983 Winkelman MD, Banker BQ, Victor M, Moser HW. Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study. Neurology. 33: 994-1008. PMID 6683823 DOI: 10.1212/Wnl.33.8.994  0.195
1999 Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, Moser HW. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Annals of Neurology. 45: 100-10. PMID 9894883  0.194
2005 Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. Jama. 294: 3131-4. PMID 16380594 DOI: 10.1001/jama.294.24.3131  0.191
1983 Brown FR, Chen WW, Kirschner DA, Frayer KL, Powers JM, Moser AB, Moser HW. Myelin membrane from adrenoleukodystrophy brain white matter--biochemical properties. Journal of Neurochemistry. 41: 341-8. PMID 6875541 DOI: 10.1111/J.1471-4159.1983.Tb04748.X  0.19
1999 Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Molecular Genetics and Metabolism. 66: 128-36. PMID 10068516 DOI: 10.1006/Mgme.1998.2779  0.188
2000 Lachtermacher MB, Seuánez HN, Moser AB, Moser HW, Smith KD. Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Human Mutation. 15: 348-53. PMID 10737980 DOI: 10.1002/(Sici)1098-1004(200004)15:4<348::Aid-Humu7>3.0.Co;2-N  0.188
1987 Noetzel MJ, Landau WM, Moser HW. Adrenoleukodystrophy carrier state presenting as a chronic nonprogressive spinal cord disorder. Archives of Neurology. 44: 566-7. PMID 3579671 DOI: 10.1001/archneur.1987.00520170092031  0.188
1982 O'Neill BP, Moser HW, Saxena KM. Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts. Neurology. 32: 543-7. PMID 6280107 DOI: 10.1212/WNL.32.5.543  0.186
1997 Tourbah A, Stievenart JL, Iba-Zizen MT, Lubetzki C, Baumann N, Eymard B, Moser HW, Lyon-Caen O, Cabanis EA. Localized proton magnetic resonance spectroscopy in patients with adult adrenoleukodystrophy. Increase of choline compounds in normal appearing white matter. Archives of Neurology. 54: 586-92. PMID 9152115  0.186
2005 Mahmood A, Dubey P, Moser HW, Moser A. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatric Transplantation. 9: 55-62. PMID 16305618 DOI: 10.1111/j.1399-3046.2005.00447.x  0.183
2002 Hershkovitz E, Narkis G, Shorer Z, Moser AB, Watkins PA, Moser HW, Manor E. Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion. Annals of Neurology. 52: 234-7. PMID 12210797 DOI: 10.1002/ana.10248  0.181
1999 Melhem ER, Barker PB, Raymond GV, Moser HW. X-linked adrenoleukodystrophy in children: review of genetic, clinical, and MR imaging characteristics. Ajr. American Journal of Roentgenology. 173: 1575-81. PMID 10584804 DOI: 10.2214/ajr.173.6.10584804  0.18
1997 van der Knaap M, Barth P, Gabreëls F, Naidu S, Moser H. Disease of the vanishing white matter Clinical Neurology and Neurosurgery. 99: 75. DOI: 10.1016/S0303-8467(97)87744-X  0.179
2002 Mori S, Kaufmann WE, Davatzikos C, Stieltjes B, Amodei L, Fredericksen K, Pearlson GD, Melhem ER, Solaiyappan M, Raymond GV, Moser HW, van Zijl PC. Imaging cortical association tracts in the human brain using diffusion-tensor-based axonal tracking. Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine. 47: 215-23. PMID 11810663 DOI: 10.1002/Mrm.10074  0.175
2006 Cox CS, Dubey P, Raymond GV, Mahmood A, Moser AB, Moser HW. Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. Archives of Neurology. 63: 69-73. PMID 16401737 DOI: 10.1001/archneur.63.1.69  0.174
2002 Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, et al. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. American Journal of Human Genetics. 70: 1520-31. PMID 11992258 DOI: 10.1086/340849  0.17
1995 Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD. Altered expression of ALDP in X-linked adrenoleukodystrophy. American Journal of Human Genetics. 57: 292-301. PMID 7668254  0.169
2001 Powers JM, Rosenblatt DS, Schmidt RE, Cross AH, Black JT, Moser AB, Moser HW, Morgan DJ. Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. Annals of Neurology. 49: 396-400. PMID 11261516 DOI: 10.1002/Ana.78  0.169
1985 Goldfischer S, Collins J, Rapin I, Coltoff-Schiller B, Chang CH, Nigro M, Black VH, Javitt NB, Moser HW, Lazarow PB. Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies. Science (New York, N.Y.). 227: 67-70. PMID 3964959 DOI: 10.1126/Science.3964959  0.168
2005 Dubey P, Raymond GV, Moser AB, Kharkar S, Bezman L, Moser HW. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. The Journal of Pediatrics. 146: 528-32. PMID 15812458 DOI: 10.1016/j.jpeds.2004.10.067  0.167
1987 Moser AB, Borel J, Odone A, Naidu S, Cornblath D, Sanders DB, Moser HW. A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients. Annals of Neurology. 21: 240-9. PMID 2440378 DOI: 10.1002/ana.410210305  0.164
1988 Naidu S, Kitt CA, Wong DF, Price DL, Troncoso JC, Moser HW. Research on Rett syndrome: strategy and preliminary results. Journal of Child Neurology. 3: S78-86. PMID 3058792 DOI: 10.1177/0883073888003001S16  0.163
1989 Al BJ, Tiffany CW, Gomes de Mesquita DS, Moser HW, Tager JM, Schram AW. Properties of acid ceramidase from human spleen. Biochimica Et Biophysica Acta. 1004: 245-51. PMID 2526656 DOI: 10.1016/0005-2760(89)90274-9  0.162
1973 Kishimoto Y, Williams M, Moser HW, Hignite C, Biermann K. Branched-chain and odd-numbered fatty acids and aldehydes in the nervous system of a patient with deranged vitamin B 12 metabolism. Journal of Lipid Research. 14: 69-77. PMID 4701555  0.16
2006 Zackowski KM, Dubey P, Raymond GV, Mori S, Bastian AJ, Moser HW. Sensorimotor function and axonal integrity in adrenomyeloneuropathy. Archives of Neurology. 63: 74-80. PMID 16401738 DOI: 10.1001/Archneur.63.1.74  0.158
2005 Powers JM, Pei Z, Heinzer AK, Deering R, Moser AB, Moser HW, Watkins PA, Smith KD. Adreno-leukodystrophy: oxidative stress of mice and men. Journal of Neuropathology and Experimental Neurology. 64: 1067-79. PMID 16319717 DOI: 10.1097/01.jnen.0000190064.28559.a4  0.158
2001 Katz R, Hamilton JA, Spector AA, Moore SA, Moser HW, Noetzel MJ, Watkins PA. Brain uptake and utilization of fatty acids: recommendations for future research. Journal of Molecular Neuroscience : Mn. 16: 333-5. PMID 11478387 DOI: 10.1385/Jmn:16:2-3:333  0.157
2002 Villemagne PM, Naidu S, Villemagne VL, Yaster M, Wagner HN, Harris JC, Moser HW, Johnston MV, Dannals RF, Wong DF. Brain glucose metabolism in Rett Syndrome. Pediatric Neurology. 27: 117-22. PMID 12213612 DOI: 10.1016/S0887-8994(02)00399-5  0.156
1997 Kaplan PW, Tusa RJ, Rignani J, Moser HW. Somatosensory evoked potentials in adrenomyeloneuropathy. Neurology. 48: 1662-7. PMID 9191783  0.154
2000 Kaufmann WE, Moser HW. Dendritic anomalies in disorders associated with mental retardation. Cerebral Cortex (New York, N.Y. : 1991). 10: 981-91. PMID 11007549  0.153
2001 Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Human Mutation. 18: 499-515. PMID 11748843 DOI: 10.1002/Humu.1227  0.153
1999 Moser AB, Moser HW. The prenatal diagnosis of X-linked adrenoleukodystrophy. Prenatal Diagnosis. 19: 46-8. PMID 10073906 DOI: 10.1002/(SICI)1097-0223(199901)19:1<46::AID-PD501>3.0.CO;2-E  0.152
1985 Yeager AM, Singer HS, Buck JR, Matalon R, Brennan S, O'Toole SO, Moser HW. A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseases. American Journal of Medical Genetics. 22: 347-55. PMID 3931477 DOI: 10.1002/ajmg.1320220219  0.152
2001 Ito M, Blumberg BM, Mock DJ, Goodman AD, Moser AB, Moser HW, Smith KD, Powers JM. Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation. Journal of Neuropathology and Experimental Neurology. 60: 1004-19. PMID 11589421 DOI: 10.1093/JNEN/60.10.1004  0.151
2006 Cox C, Prachi D, Mahmood A, Raymond G, Moser H. BASELINE COGNITIVE PERFORMANCE IN ASYMPTOMATIC BOYS WITH X-ALD WHO LATER DEVELOP CEREBRAL DISEASE Neuropediatrics. 37. DOI: 10.1055/S-2006-943576  0.149
1993 Kaplan PW, Tusa RJ, Shankroff J, Heller J, Moser HW. Visual evoked potentials in adrenoleukodystrophy: a trial with glycerol trioleate and Lorenzo oil. Annals of Neurology. 34: 169-74. PMID 8338341 DOI: 10.1002/ana.410340212  0.149
2005 Moser HW. Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype. Annals of Neurology. 57: 307-8. PMID 15732119 DOI: 10.1002/ana.20436  0.146
1999 Moser AB, Jones DS, Raymond GV, Moser HW. Plasma and red blood cell fatty acids in peroxisomal disorders. Neurochemical Research. 24: 187-97. PMID 9972864  0.145
1997 Lu JF, Lawler AM, Watkins PA, Powers JM, Moser AB, Moser HW, Smith KD. A mouse model for X-linked adrenoleukodystrophy. Proceedings of the National Academy of Sciences of the United States of America. 94: 9366-71. PMID 9256488 DOI: 10.1073/pnas.94.17.9366  0.143
1995 McGuinness MC, Griffin DE, Raymond GV, Washington CA, Moser HW, Smith KD. Tumor necrosis factor-alpha and X-linked adrenoleukodystrophy. Journal of Neuroimmunology. 61: 161-9. PMID 7593551 DOI: 10.1016/0165-5728(95)00084-F  0.142
1987 Wanders RJ, Schutgens RB, Schrakamp G, Tager JM, Van den Bosch H, Moser AB, Moser HW. Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts. Journal of the Neurological Sciences. 77: 331-40. PMID 3819771 DOI: 10.1016/0022-510X(87)90132-8  0.141
1981 Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proceedings of the National Academy of Sciences of the United States of America. 78: 5066-70. PMID 6795626 DOI: 10.1073/Pnas.78.8.5066  0.141
1973 Sugita M, Dulaney JT, Moser HW. Ceramidase deficiency in Farber's disease (lipogranulomatosis). Science (New York, N.Y.). 178: 1100-2. PMID 4678225 DOI: 10.1126/science.178.4065.1100  0.14
2006 Moser HW. Therapy of X-linked adrenoleukodystrophy. Neurorx : the Journal of the American Society For Experimental Neurotherapeutics. 3: 246-53. PMID 16554262 DOI: 10.1016/j.nurx.2006.01.004  0.14
1992 Maeda K, Suzuki Y, Yajima S, Asano J, Yamaguchi S, Matsumoto N, Borel J, Moser HW, Orii T. Improvement of clinical and MRI findings in a boy with adrenoleukodystrophy by dietary erucic acid therapy. Brain & Development. 14: 409-12. PMID 1492654  0.139
1986 Poll-The BT, Saudubray JM, Ogier H, Schutgens RB, Wanders RJ, Schrakamp G, van den Bosch H, Trijbels JM, Poulos A, Moser HW. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. Journal of Inherited Metabolic Disease. 9: 169-74. PMID 2427795  0.139
1980 Trapp BD, McIntyre LJ, Quarles RH, Nonaka G, Moser A, Moser HW, Webster HF. Biochemical characterization of myelin isolated from the central nervous system of Xenopus tadpoles. Journal of Neurochemistry. 34: 1241-6. PMID 6246204  0.139
1994 Phillips JP, Lockman LA, Shapiro EG, Blazar BR, Loes DJ, Moser HW, Krivit W. CSF findings in adrenoleukodystrophy: correlation between measures of cytokines, IgG production, and disease severity. Pediatric Neurology. 10: 289-94. PMID 7520699 DOI: 10.1016/0887-8994(94)90124-4  0.138
1967 Prensky AL, Moser HW. Changes in the amino acid composition of proteolipids of white matter during maturation of the human nervous system. Journal of Neurochemistry. 14: 117-21. PMID 6018074 DOI: 10.1111/J.1471-4159.1967.TB09500.X  0.138
1994 Danpure CJ, Fryer P, Griffiths S, Guttridge KM, Jennings PR, Allsop J, Moser AB, Naidu S, Moser HW, MacCollin M. Cytosolic compartmentalization of hepatic alanine:glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism. Journal of Inherited Metabolic Disease. 17: 27-40. PMID 8051936 DOI: 10.1007/BF00735393  0.137
1981 Lott IT, Parker SW, Herndon RM, Moser HW. 1590 DEMYELINATION IN PELIZAEUS-MERZBACHER DISEASE Pediatric Research. 15: 708-708. DOI: 10.1203/00006450-198104001-01607  0.137
2001 Faust PL, Su HM, Moser A, Moser HW. The peroxisome deficient PEX2 Zellweger mouse: pathologic and biochemical correlates of lipid dysfunction. Journal of Molecular Neuroscience : Mn. 16: 289-97; discussion 3. PMID 11478384 DOI: 10.1385/Jmn:16:2-3:289  0.136
1999 Moser H, Bezman L, Raymond G. 273 Prognosis of patients with X-linked adrenoleukodystrophy (X-ALD) who have not received bone marrow transplants European Journal of Paediatric Neurology. 3: A99. DOI: 10.1016/S1090-3798(99)91250-3  0.136
1981 Burlingame RW, Thomas GH, Stevens RL, Schmid K, Moser HW. Direct quantitation of glycosaminoglycans in 2 mL of urine from patients with mucopolysaccharidoses. Clinical Chemistry. 27: 124-128. DOI: 10.1093/clinchem/27.1.124  0.136
1987 Wanders RJA, Schutgens RBH, Schrakamp G, van den Bosch H, Tager JM, Moser AB, Moser HW. Generalized loss of peroxisomal functions in neonatal adrenoleukodystrophy: Implications for Pre- and postnatal detection and relationship to X-linked adrenoleukodystrophy Journal of Inherited Metabolic Disease. 10: 225-228. DOI: 10.1007/BF01811411  0.134
2009 Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, Setchell KD, Heubi JE, Raymond GV, Moser AB, Moser HW. A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. Journal of Inherited Metabolic Disease. 32: 109-19. PMID 19127411 DOI: 10.1007/s10545-008-0969-8  0.134
1999 Moser HW. [Disorders associated with alterations in single peroxisomal proteins, including X-linked adrenoleukodystrophy]. Revista De Neurologia. 28: S55-8. PMID 10778490  0.133
1991 Wenk GL, Naidu S, Casanova MF, Kitt CA, Moser H. Altered neurochemical markers in Rett's syndrome. Neurology. 41: 1753-6. PMID 1658685 DOI: 10.1212/Wnl.41.11.1753  0.132
1983 Hreidarsson SJ, Thomas GH, Kihara H, Fluharty AL, Kolodny EH, Moser HW, Reynolds LW. Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy. Pediatric Research. 17: 701-4. PMID 6137805 DOI: 10.1203/00006450-198309000-00001  0.131
1991 Naidu S, Moser HW. Value of neuroimaging in metabolic diseases affecting the CNS. Ajnr. American Journal of Neuroradiology. 12: 413-6. PMID 2058485  0.131
1983 Cohen SM, Brown FR, Martyn L, Moser HW, Chen W, Kistenmacher M, Punnett H, de la Cruz ZC, Chan NR, Green WR. Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. American Journal of Ophthalmology. 96: 488-501. PMID 6624831  0.128
1968 Prensky AL, Carr S, Moser HW. Development of Myelin in Inherited Disorders of Amino Acid Metabolism: A Biochemical Investigation Archives of Neurology. 19: 552-558. PMID 5726767 DOI: 10.1001/archneur.1968.00480060022002  0.128
2001 Watkins PA, Hamilton JA, Leaf A, Spector AA, Moore SA, Anderson RE, Moser HW, Noetzel MJ, Katz R. Brain uptake and utilization of fatty acids: applications to peroxisomal biogenesis diseases. Journal of Molecular Neuroscience : Mn. 16: 87-92; discussion 15. PMID 11478388 DOI: 10.1385/Jmn:16:2-3:87  0.128
1996 Kaufmann WE, Theda C, Naidu S, Watkins PA, Moser AB, Moser HW. Neuronal migration abnormality in peroxisomal bifunctional enzyme defect. Annals of Neurology. 39: 268-71. PMID 8967760 DOI: 10.1002/ana.410390218  0.128
1999 Moser HW, Kemp S, Smith KD. Mutational analysis and the pathogenesis of variant X-linked adrenoleukodystrophy phenotypes. Archives of Neurology. 56: 273-5. PMID 10190815  0.127
2001 Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Annals of Neurology. 49: 512-7. PMID 11310629  0.127
1989 Powers JM, Tummons RC, Caviness VS, Moser AB, Moser HW. Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome. Journal of Neuropathology and Experimental Neurology. 48: 270-89. PMID 2703857 DOI: 10.1097/00005072-198905000-00005  0.126
2011 Moser AB, Steinberg SJ, Watkins PA, Moser HW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JG. Human and great ape red blood cells differ in plasmalogen levels and composition. Lipids in Health and Disease. 10: 101. PMID 21679470 DOI: 10.1186/1476-511X-10-101  0.126
1985 Powers JM, Moser HW, Moser AB, Upshur JK, Bradford BF, Pai SG, Kohn PH, Frias J, Tiffany C. Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. Human Pathology. 16: 610-20. PMID 3997138  0.124
1982 Powers JM, Moser HW, Moser AB, Schaumburg HH. Fetal adrenoleukodystrophy: the significance of pathologic lesions in adrenal gland and testis. Human Pathology. 13: 1013-9. PMID 6759362  0.124
1988 Naidu S, Bresnan MJ, Griffin D, O'Toole S, Moser HW. Childhood adrenoleukodystrophy. Failure of intensive immunosuppression to arrest neurologic progression. Archives of Neurology. 45: 846-8. PMID 3293554 DOI: 10.1001/Archneur.1988.00520320032011  0.123
1975 Iwamori M, Moser HW. Above-Normal Urinary Excretion of Urinary Ceramides in Farber's Disease, and Characterization of Their Components by High-Performance Liquid Chromatography Clinical Chemistry. 21: 725-729. DOI: 10.1093/CLINCHEM/21.6.725  0.123
1975 Iwamori M, Moser HW. Above-normal urinary excretion of urinary ceramides in Farber's disease, and characterization of their components by high-performance liquid chromatography. Clinical Chemistry. 21: 725-9. PMID 1122616  0.122
1987 Powers JM, Moser HW, Moser AB, Ma CK, Elias SB, Norum RA. Pathologic findings in adrenoleukodystrophy heterozygotes. Archives of Pathology & Laboratory Medicine. 111: 151-3. PMID 3813829  0.122
1977 Iwamori M, Moser HW, Kishimoto Y. Steroid sulfatase in brain: comparison of sulfohydrolase activities for various steroid sulfates in normal and pathological brains, including the various forms of metachromatic leukodystrophy. Journal of Neurochemistry. 27: 1389-95. PMID 12249 DOI: 10.1111/J.1471-4159.1976.TB02620.X  0.121
1985 Burck U, Moser HW, Goebel HH, Grüttner R, Held KR. A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. European Journal of Pediatrics. 143: 203-8. PMID 3987715  0.12
1998 Bezman L, Moser HW. Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. American Journal of Medical Genetics. 76: 415-9. PMID 9556301 DOI: 10.1002/(SICI)1096-8628(19980413)76:5<415::AID-AJMG9>3.0.CO;2-L  0.12
1993 Stöckler S, Millner M, Molzer B, Ebner F, Körner E, Moser HW. Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy. European Neurology. 33: 390-2. PMID 8243517  0.119
1988 Small GM, Santos MJ, Imanaka T, Poulos A, Danks DM, Moser HW, Lazarow PB. Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy. Journal of Inherited Metabolic Disease. 11: 358-71. PMID 2468817 DOI: 10.1007/Bf01800425  0.119
1973 Sugita M, Connolly P, Dulaney JT, Moser HW. Fatty acid composition of free ceramides of kidney and cerebellum from a patient with Farber's disease. Lipids. 8: 401-6. PMID 4740649 DOI: 10.1007/BF02531715  0.118
1995 Kumar AJ, Köhler W, Kruse B, Naidu S, Bergin A, Edwin D, Moser HW. MR findings in adult-onset adrenoleukodystrophy. Ajnr. American Journal of Neuroradiology. 16: 1227-37. PMID 7677014  0.118
1998 Powers JM, Moser HW. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathology (Zurich, Switzerland). 8: 101-20. PMID 9458170  0.118
1998 Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. Molecular and Cellular Biology. 18: 4324-36. PMID 9632816 DOI: 10.1128/MCB.18.7.4324  0.117
2003 Moser HW, Raymond GV, Koehler W, Sokolowski P, Hanefeld F, Korenke GC, Green A, Loes DJ, Hunneman DH, Jones RO, Lu SE, Uziel G, Giros ML, Roels F. Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials. Advances in Experimental Medicine and Biology. 544: 369-87. PMID 14713253  0.117
1973 BARTSOCAS CS, PAPASOTIRIOU N, KARAGEORGA M, MOSER HW. HUNTERS SYNDROME AND COOLEY'S ANAEMIA IN THE SAME PATIENT Effect of Multiple Transfusions Acta PæDiatrica. 62: 66-68. PMID 4632385 DOI: 10.1111/j.1651-2227.1973.tb08067.x  0.116
1983 Goldfischer S, Powers JM, Johnson AB, Axe S, Brown FR, Moser HW. Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome. Virchows Archiv. a, Pathological Anatomy and Histopathology. 401: 355-61. PMID 6415912 DOI: 10.1007/Bf00734851  0.116
1966 Prensky AL, Moser HW. Brain lipids, proteolipids, and free amino acids in maple syrup urine disease Journal of Neurochemistry. 13: 863-874. PMID 5928229  0.114
1998 Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. American Journal of Human Genetics. 63: 347-59. PMID 9683594 DOI: 10.1086/301963  0.114
1997 Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nature Genetics. 17: 445-8. PMID 9398847 DOI: 10.1038/ng1297-445  0.114
1987 Powers JM, Tummons RC, Moser AB, Moser HW, Huff DS, Kelley RI. Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome. Acta Neuropathologica. 73: 333-43. PMID 3618126 DOI: 10.1007/Bf00688256  0.114
1993 Santos MJ, Moser AB, Drwinga H, Moser HW, Lazarow PB. Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7. Pediatric Research. 33: 441-4. PMID 8511016 DOI: 10.1203/00006450-199305000-00004  0.114
1995 Levade T, Tempesta MC, Moser HW, Fensom AH, Harzer K, Moser AB, Salvayre R. Sulfatide and sphingomyelin loading of living cells as tools for the study of ceramide turnover by lysosomal ceramidase--implications for the diagnosis of Farber disease. Biochemical and Molecular Medicine. 54: 117-25. PMID 8581356 DOI: 10.1006/bmme.1995.1017  0.114
1990 Tiffany CW, Hoefler S, Moser HW, Burch RM. Arachidonic acid metabolism in fibroblasts from patients with peroxisomal diseases: response to interleukin 1. Biochimica Et Biophysica Acta. 1096: 41-6. PMID 2125233  0.113
1992 Santos MJ, Hoefler S, Moser AB, Moser HW, Lazarow PB. Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome. Journal of Cellular Physiology. 151: 103-12. PMID 1560037 DOI: 10.1002/jcp.1041510115  0.112
1988 Shimizu H, Moser HW, Naidu S. Auditory brainstem response and audiologic findings in adrenoleukodystrophy: its variant and carrier. Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery. 98: 215-20. PMID 3127785  0.112
1986 Naidu S, Murphy M, Moser HW, Rett A. Rett syndrome--natural history in 70 cases. American Journal of Medical Genetics. Supplement. 1: 61-72. PMID 3087204  0.111
2001 Noetzel M, Moser H, Salem N, Martinez M, Raymond G, Powers J, Faust P, Rapoport S, Yavin E, Katz R, Mihalik S, Edmond J. Brain uptake and utilization of fatty acids: Applications to peroxisomal biogenesis disorders (An International Workshop): Roundtable discussion of session 4: The roles of DHA in Zellweger syndrome, a representative peroxisomal biogenesis disorder Journal of Molecular Neuroscience. 16: 317-321. DOI: 10.1385/Jmn:16:2-3:317  0.111
1995 Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J, Watkins PA, Gould S, Sack G, Moser H, Mandel JL, Smith KD. Mutational analysis of patients with X-linked adrenoleukodystrophy Human Mutation. 6: 104-115. PMID 7581394 DOI: 10.1002/Humu.1380060203  0.111
1995 Moser HW, Powers JM, Smith KD. Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil. Brain Pathology (Zurich, Switzerland). 5: 259-66. PMID 8520725 DOI: 10.1111/J.1750-3639.1995.Tb00602.X  0.11
1995 Kaplan PW, Kruse B, Tusa RJ, Shankroff J, Rignani J, Moser HW. Visual system abnormalities in adrenomyeloneuropathy. Annals of Neurology. 37: 550-2. PMID 7717693 DOI: 10.1002/ana.410370419  0.109
1982 Brown FR, Hall CW, Neufeld EF, Munoz LL, Braine H, Andrzejewski S, Camargo EE, Mark SA, Richard JM, Moser HW. Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study. American Journal of Medical Genetics. 13: 309-18. PMID 6817638 DOI: 10.1002/Ajmg.1320130314  0.109
2009 Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. Human Mutation. 30: E467-80. PMID 19105186 DOI: 10.1002/humu.20932  0.109
1999 Chang CC, South S, Warren D, Jones J, Moser AB, Moser HW, Gould SJ. Metabolic control of peroxisome abundance. Journal of Cell Science. 112: 1579-90. PMID 10212151  0.109
1976 Lott IT, Dulaney JT, Milunsky A, Hoefnagel D, Moser HW. Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. The Journal of Pediatrics. 89: 438-40. PMID 8599 DOI: 10.1016/S0022-3476(76)80546-X  0.109
1995 Moser HW, Borel J. Dietary management of X-linked adrenoleukodystrophy. Annual Review of Nutrition. 15: 379-97. PMID 8527226 DOI: 10.1146/annurev.nu.15.070195.002115  0.109
2008 Pillion JP, Moser HW, Raymond GV. Auditory function in adrenomyeloneuropathy. Journal of the Neurological Sciences. 269: 24-9. PMID 18199457 DOI: 10.1016/j.jns.2007.12.011  0.109
1975 Moser HW, Wolf PA. The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School. Birth Defects Original Article Series. 7: 117-34. PMID 5006209  0.108
1995 Watkins PA, McGuinness MC, Raymond GV, Hicks BA, Sisk JM, Moser AB, Moser HW. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Annals of Neurology. 38: 472-7. PMID 7668838 DOI: 10.1002/ana.410380322  0.107
1980 Kishimoto Y, Moser HW, Kawamura N, Platt M, Pallante SL, Fenselau C. Adrenoleukodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin. Biochemical and Biophysical Research Communications. 96: 69-76. PMID 7437052 DOI: 10.1016/0006-291X(80)91182-1  0.107
1984 Yeager AM, Moser HW, Singer HS, Buck JR, Matalon R. AMNIOTIC EPITHELIAL CELL IMPLANTATION (AECI) IN LYSOSOMAL STORAGE DISEASES Pediatric Research. 18: 227A-227A. DOI: 10.1203/00006450-198404001-00803  0.107
1979 Brown MJ, Iwamori M, Kishimoto Y, Rapoport B, Moser HW, Asbury AK. Nerve lipid abnormalities in human diabetic neuropathy: a correlative study. Annals of Neurology. 5: 245-52. PMID 443757 DOI: 10.1002/Ana.410050306  0.107
1995 Slawecki ML, Dodt G, Steinberg S, Moser AB, Moser HW, Gould SJ. Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders. Journal of Cell Science. 108: 1817-29. PMID 7544797  0.106
1995 Levade T, Moser HW, Fensom AH, Harzer K, Moser AB, Salvayre R. Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells. Journal of the Neurological Sciences. 134: 108-14. PMID 8747852  0.106
1976 Dulaney JT, Milunsky A, Moser HW. Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes. Clinica Chimica Acta; International Journal of Clinical Chemistry. 69: 305-10. PMID 819189 DOI: 10.1016/0009-8981(76)90509-x  0.106
1983 Kandt RS, Heldrich FJ, Moser HW. Recovery from probably central pontine myelinolysis associated with Addison's disease. Archives of Neurology. 40: 118-9. PMID 6824444  0.105
1985 Griffin DE, Moser HW, Mendoza Q, Moench TR, O'Toole S, Moser AB. Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy. Annals of Neurology. 18: 660-4. PMID 3909937 DOI: 10.1002/Ana.410180606  0.105
1984 Moser HW, Tutschka PJ, Brown FR, Moser AE, Yeager AM, Singh I, Mark SA, Kumar AA, McDonnell JM, White CL. Bone marrow transplant in adrenoleukodystrophy. Neurology. 34: 1410-7. PMID 6387532 DOI: 10.1212/Wnl.34.11.1410  0.105
1975 Iwamori M, Moser HW, McCluer RH, Kishimoto Y. 3-Ketosphingolipids: application to the determination of sphingolipids which contain 4-sphingenine. Biochimica Et Biophysica Acta. 380: 308-19. PMID 1120148 DOI: 10.1016/0005-2760(75)90017-X  0.104
1974 Sugita M, Dulaney JT, Moser HW. Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide. Journal of Lipid Research. 15: 227-33. PMID 4363968  0.104
2002 Tagawa Y, Laroy W, Nimrichter L, Fromholt SE, Moser AB, Moser HW, Schnaar RL. Anti-ganglioside antibodies bind with enhanced affinity to gangliosides containing very long chain fatty acids. Neurochemical Research. 27: 847-55. PMID 12374222 DOI: 10.1023/A:1020221410895  0.104
2003 MOSER HW, EMERSON K. Estimation of the phospholipid phosphorus turnover time in man: studies in normal individuals, in patients with the nephrotic syndrome and in other types of hyperlipemia. The Journal of Clinical Investigation. 34: 1286-96. PMID 13242661 DOI: 10.1172/JCI103175  0.104
2006 Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. The Journal of Biological Chemistry. 281: 1317-23. PMID 16257970 DOI: 10.1074/jbc.M510044200  0.104
1984 Van Duyn MA, Moser AE, Brown FR, Sacktor N, Liu A, Moser HW. The design of a diet restricted in saturated very long-chain fatty acids: therapeutic application in adrenoleukodystrophy. The American Journal of Clinical Nutrition. 40: 277-84. PMID 6465061  0.103
1990 Gärtner J, Balfe A, Chen WW, Moser HW. Study of peroxisomal proteins in patients with Zellweger syndrome. Journal of Inherited Metabolic Disease. 13: 383-6. PMID 2122106  0.102
1987 Watkins PA, Naidu S, Moser HW. Adrenoleukodystrophy: biochemical procedures in diagnosis, prevention and treatment. Journal of Inherited Metabolic Disease. 10: 46-53. PMID 3119941  0.1
1984 Carpenter GG, Graziani LJ, Moser HW, Schaumberg HH. ADRENOLEUKODYSTROPHY (ALD) WITH TRANSIENT AMAUROSIS WITHOUT CLINICAL DEGENERATION, A DISEASE VARIANT OR THIRD ALLELE Pediatric Research. 18: 374A-374A. DOI: 10.1203/00006450-198404001-01687  0.1
1988 Naidu S, Hofmann KJ, Moser HW, Maumenee IH, Wenger DA. Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot. Neuropediatrics. 19: 46-8. PMID 3362311 DOI: 10.1055/s-2008-1052400  0.1
2005 Moser HW, Barker PB. Magnetic resonance spectroscopy: a new guide for the therapy of adrenoleukodystrophy. Neurology. 64: 406-7. PMID 15699364 DOI: 10.1212/WNL.64.3.406  0.1
2007 Mahmood A, Raymond GV, Dubey P, Peters C, Moser HW. Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study. The Lancet. Neurology. 6: 687-92. PMID 17618834 DOI: 10.1016/S1474-4422(07)70177-1  0.099
1999 Moser HW. Treatment of X-linked adrenoleukodystrophy with Lorenzo's oil. Journal of Neurology, Neurosurgery, and Psychiatry. 67: 279-80. PMID 10449544  0.098
1989 Fusch C, Huenges R, Moser HW, Sewell AC, Roggendorf W, Kustermann-Kuhn B, Poulos A, Carey WF, Harzer K. A case of combined Farber and Sandhoff disease. European Journal of Pediatrics. 148: 558-62. PMID 2744019  0.097
1984 O'Neill BP, Moser HW, Saxena KM, Marmion LC. Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. Neurology. 34: 798-801. PMID 6539445  0.097
1995 Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nature Genetics. 9: 115-25. PMID 7719337 DOI: 10.1038/ng0295-115  0.097
2000 Santos MJ, Henderson SC, Moser AB, Moser HW, Lazarow PB. Peroxisomal ghosts are intracellular structures distinct from lysosomal compartments in Zellweger syndrome: a confocal laser scanning microscopy study. Biology of the Cell / Under the Auspices of the European Cell Biology Organization. 92: 85-94. PMID 10879629 DOI: 10.1016/S0248-4900(00)89016-4  0.096
2000 Yeager AM, Uhas KA, Coles CD, Davis PC, Krause WL, Moser HW. Bone marrow transplantation for infantile ceramidase deficiency (Farber disease). Bone Marrow Transplantation. 26: 357-63. PMID 10967581 DOI: 10.1038/sj.bmt.1702489  0.095
1987 Chen WW, Watkins PA, Osumi T, Hashimoto T, Moser HW. Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy. Proceedings of the National Academy of Sciences of the United States of America. 84: 1425-8. PMID 3469675  0.094
1982 Jaffe R, Crumrine P, Hashida Y, Moser HW. Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. The American Journal of Pathology. 108: 100-11. PMID 7091298  0.094
1992 Zoeller RA, Rangaswamy S, Herscovitz H, Rizzo WB, Hajra AK, Das AK, Moser HW, Moser A, Lazarow PB, Santos MJ. Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes. The Journal of Biological Chemistry. 267: 8299-306. PMID 1569085  0.094
1965 Young RR, Austen KF, Moser HW. Ataxia-telangiectasia and the thymus. Transactions of the American Neurological Association. 89: 28-32. PMID 5828524  0.093
1981 Burlingame RW, Thomas GH, Stevens RL, Schmid K, Moser HW. Direct quantitation of glycosaminoglycans in 2 mL of urine from patients with mucopolysaccharidoses. Clinical Chemistry. 27: 124-8. PMID 6778634  0.093
1982 Moser HW, Moser AB, Powers JM, Nitowsky HM, Schaumburg HH, Norum RA, Migeon BR. The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland. Pediatric Research. 16: 172-5. PMID 7063272 DOI: 10.1203/00006450-198203000-00002  0.092
1983 Cohen SM, Green WR, de la Cruz ZC, Brown FR, Moser HW, Luckenbach MW, Dove DJ, Maumenee IH. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. American Journal of Ophthalmology. 95: 82-96. PMID 6295171 DOI: 10.1016/0002-9394(83)90336-7  0.091
1976 Iwamori M, Moser HW, Kishimoto Y. Cholesterol sulfate in rat tissues. Tissue distribution, developmental change and brain subcellular localization. Biochimica Et Biophysica Acta. 441: 268-79. PMID 952990 DOI: 10.1016/0005-2760(76)90170-3  0.091
1974 Sugita M, Iwamori M, Evans J, McCluer RH, Dulaney JT, Moser HW. High performance liquid chromatography of ceramides: application to analysis in human tissues and demonstration of ceramide excess in Farber's disease. Journal of Lipid Research. 15: 223-6. PMID 4363967  0.091
1995 Moser HW. Adrenoleukodystrophy. Current Opinion in Neurology. 8: 221-6. PMID 7551122  0.09
1991 Moser HW, Bergin A, Naidu S, Ladenson PW. Adrenoleukodystrophy. Endocrinology and Metabolism Clinics of North America. 20: 297-318. PMID 1879401  0.09
1987 Moser HW, Naidu S, Kumar AJ, Rosenbaum AE. The adrenoleukodystrophies. Critical Reviews in Neurobiology. 3: 29-88. PMID 3552451  0.09
1982 O'Neill BP, Moser HW. Adrenoleukodystrophy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 9: 449-52. PMID 6758925  0.09
1997 Nagan N, Hajra AK, Das AK, Moser HW, Moser A, Lazarow P, Purdue PE, Zoeller RA. A fibroblast cell line defective in alkyl-dihydroxyacetone phosphate synthase: a novel defect in plasmalogen biosynthesis. Proceedings of the National Academy of Sciences of the United States of America. 94: 4475-80. PMID 9114014 DOI: 10.1073/Pnas.94.9.4475  0.089
2000 MOSER HW, KARNOVSKY ML. Studies on the biosynthesis of glycolipides and other lipides of the brain. The Journal of Biological Chemistry. 234: 1990-7. PMID 13673001  0.089
1959 Moser HW, Karnovsky ML. Studies on the Biosynthesis of Glycolipides and Other Lipides of the Brain Journal of Biological Chemistry. 234: 1990-1997. DOI: 10.1016/s0021-9258(18)69854-0  0.089
1979 Fensom AH, Benson PF, Neville BR, Moser HW, Moser AE, Dulaney JT. Prenatal diagnosis of Farber's disease. Lancet. 2: 990-2. PMID 91777  0.089
1997 Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Heijmans HS, Wanders RJ. Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. Journal of Inherited Metabolic Disease. 20: 444-6. PMID 9266377  0.089
1980 Moser HW, Braine H, Pyeritz RE, Ullman D, Murray C, Asbury AK. Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. Birth Defects Original Article Series. 16: 491-7. PMID 6160883  0.088
1976 Dulaney J, Moser HW, Sidbury J, Milunsky A. The biochemical defect in Farber's disease. Advances in Experimental Medicine and Biology. 68: 403-11. PMID 937114 DOI: 10.1007/978-1-4684-7735-1_27  0.088
1987 Qualman SJ, Moser HW, Valle D, Moser AE, Antonarakis SE, Boitnott JK, Zinkham WH. Farber disease: pathologic diagnosis in sibs with phenotypic variability. American Journal of Medical Genetics. Supplement. 3: 233-41. PMID 3130860  0.088
1999 Moser HW. [Peroxisomal disorders: classification and overview of biochemical abnormalities]. Revista De Neurologia. 28: S45-8. PMID 10778488  0.088
1986 Harris JC, Wong DF, Wagner HN, Rett A, Naidu S, Dannals RF, Links JM, Batshaw ML, Moser HW. Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in Rett syndrome. American Journal of Medical Genetics. Supplement. 1: 201-10. PMID 3087182 DOI: 10.1002/ajmg.1320250523  0.087
2006 Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochimica Et Biophysica Acta. 1763: 1733-48. PMID 17055079 DOI: 10.1016/j.bbamcr.2006.09.010  0.086
1988 Moser HW. The peroxisome: nervous system role of a previously underrated organelle. The 1987 Robert Wartenberg lecture. Neurology. 38: 1617-27. PMID 2458548 DOI: 10.1212/WNL.38.10.1617  0.086
2006 Moser HW. Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation. Neurology. 67: 201-2. PMID 16864808 DOI: 10.1212/01.wnl.0000231531.73713.a9  0.086
2004 Kawada Y, Khan M, Sharma AK, Ratnayake DB, Dobashi K, Asayama K, Moser HW, Contreras MA, Singh I. Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patients. Molecular Genetics and Metabolism. 83: 297-305. PMID 15589116 DOI: 10.1016/j.ymgme.2004.07.012  0.085
2001 Powers JM, DeCiero DP, Cox C, Richfield EK, Ito M, Moser AB, Moser HW. The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria. Journal of Neuropathology and Experimental Neurology. 60: 493-501. PMID 11379824  0.085
1994 Rasmussen M, Moser AB, Borel J, Khangoora S, Moser HW. Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's oil). Neurochemical Research. 19: 1073-82. PMID 7800117  0.085
1993 Alpern M, Sack GH, Krantz DH, Jenness J, Zhang H, Moser HW. Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision. Proceedings of the National Academy of Sciences of the United States of America. 90: 9494-8. PMID 8415729 DOI: 10.1073/Pnas.90.20.9494  0.085
1984 Moser AE, Singh I, Brown FR, Solish GI, Kelley RI, Benke PJ, Moser HW. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. The New England Journal of Medicine. 310: 1141-6. PMID 6709009 DOI: 10.1056/NEJM198405033101802  0.085
1997 Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata Nature Genetics. 15: 369-376. PMID 9090381 DOI: 10.1038/ng0497-369  0.084
1993 Theda C, Woody RC, Naidu S, Moser AB, Moser HW. Increased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion. The Journal of Pediatrics. 122: 724-6. PMID 8496750  0.082
1985 Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Moser HW, Moser AE, Tager JM, Bosch HV, Aubourg P. The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens. Prenatal Diagnosis. 5: 337-44. PMID 4070172 DOI: 10.1002/pd.1970050506  0.082
1996 YOUNG RR, AUSTEN KF, MOSER HW. ABNORMALITIES OF SERUM GAMMA-1-A GLOBULIN AND ATAXIA TELANGIECTASIA. Medicine. 43: 423-33. PMID 14168753 DOI: 10.1097/00005792-196405000-00021  0.081
1993 Shimozawa N, Suzuki Y, Orii T, Moser A, Moser HW, Wanders RJ. Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. American Journal of Human Genetics. 52: 843-4. PMID 7681622  0.081
1982 Kandt RS, Emerson RG, Singer HS, Valle DL, Moser HW. Cataplexy in variant forms of Niemann-Pick disease. Annals of Neurology. 12: 284-8. PMID 7137965 DOI: 10.1002/ana.410120313  0.081
1992 Naidu S, Wong DF, Kitt C, Wenk G, Moser HW. Positron emission tomography in the Rett syndrome: clinical, biochemical and pathological correlates. Brain & Development. 14: S75-9. PMID 1385677  0.081
1993 Moser HW. Peroxisomal diseases. Advances in Human Genetics. 21: 1-106, 443-51. PMID 8317291  0.081
1989 Moser HW. Peroxisomal diseases. Advances in Pediatrics. 36: 1-38. PMID 2675566  0.081
1989 Mihalik SJ, Moser HW, Watkins PA, Danks DM, Poulos A, Rhead WJ. Peroxisomal L-pipecolic acid oxidation is deficient in liver from Zellweger syndrome patients. Pediatric Research. 25: 548-52. PMID 2717271 DOI: 10.1203/00006450-198905000-00024  0.081
1968 Pant SS, Moser HW, Krane SM. Hyperuricemia in Down's syndrome. The Journal of Clinical Endocrinology and Metabolism. 28: 472-8. PMID 4230664 DOI: 10.1210/JCEM-28-4-472  0.081
1959 KARNOVSKY ML, MOSER H, MAJNO G. Lipid biosynthesis by peripheral and central nervous tissue as a function of age Progress in Neurobiology. 4: 138-158. PMID 14404543  0.081
1998 Moser HW. Neurometabolic disease. Current Opinion in Neurology. 11: 91-5. PMID 9551286  0.08
1991 Hoefler G, Paschke E, Hoefler S, Moser AB, Moser HW. Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage. The Journal of Clinical Investigation. 88: 1873-9. PMID 1752949 DOI: 10.1172/JCI115509  0.08
2010 Watkins PA, Moser AB, Toomer CB, Steinberg SJ, Moser HW, Karaman MW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JG. Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions. Bmc Physiology. 10: 19. PMID 20932325 DOI: 10.1186/1472-6793-10-19  0.08
1993 Gärtner J, Moser H, Valle D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genetics. 1: 16-23. PMID 1301993 DOI: 10.1038/NG0492-16  0.079
1971 Gardner-Medwin D, Kishimoto Y, Derby BM, Moser HW. Cerebrotendinous xanthomatosis: in vivo labeling of cerebral sterols and sterol esters. Transactions of the American Neurological Association. 96: 241-4. PMID 5159092  0.078
1986 Libber SM, Migeon CJ, Brown FR, Moser HW. Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy. Hormone Research. 24: 1-8. PMID 3019858  0.078
1962 KARNOVSKY ML, MAJNO G, MOSER HW, JOEL CD. Defective metabolism of lipids in nervous tissue Progress in Neurobiology. 5: 287-309. PMID 13962568  0.078
1996 Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. The Embo Journal. 15: 2914-23. PMID 8670792  0.077
1996 Moser HW, Moser AB. Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders. Lipids. 31: S141-4. PMID 8729109  0.077
1982 Brown FR, McAdams AJ, Cummins JW, Konkol R, Singh I, Moser AB, Moser HW. Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. The Johns Hopkins Medical Journal. 151: 344-51. PMID 7176294  0.077
1985 Moser HW. Note on Rett syndrome symposium. Brain & Development. 7: 374. PMID 4061773  0.077
1989 Moser HW, Mihalik SJ, Watkins PA. Adrenoleukodystrophy and other peroxisomal disorders that affect the nervous system, including new observations on L-pipecolic acid oxidase in primates. Brain & Development. 11: 80-90. PMID 2653074  0.076
1975 Sugita M, Willians M, Dulaney JT, Moser HW. Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase. Biochimica Et Biophysica Acta. 398: 125-31. PMID 238641 DOI: 10.1016/0005-2760(75)90176-9  0.076
1998 Jansen GA, Mihalik SJ, Watkins PA, Jakobs C, Moser HW, Wanders RJ. Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. Clinica Chimica Acta; International Journal of Clinical Chemistry. 271: 203-11. PMID 9565335  0.076
2003 Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. American Journal of Human Genetics. 73: 233-46. PMID 12851857 DOI: 10.1086/377004  0.076
1999 Pineda M, Girós M, Roels F, Espeel M, Ruiz M, Moser A, Moser HW, Wanders RJ, Pavia C, Conill J, Aracil A, Amat L, Pampols T. Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism. Journal of Child Neurology. 14: 434-9. PMID 10573465  0.076
1992 Yajima S, Suzuki Y, Shimozawa N, Yamaguchi S, Orii T, Fujiki Y, Osumi T, Hashimoto T, Moser HW. Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells. Human Genetics. 88: 491-9. PMID 1372585  0.076
1976 Dulaney JT, Milunsky A, Sidbury JB, Hobolth N, Moser HW. Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. The Journal of Pediatrics. 89: 59-61. PMID 932904  0.075
1984 Antonarakis SE, Valle D, Moser HW, Moser A, Qualman SJ, Zinkham WH. Phenotypic variability in siblings with Farber disease. The Journal of Pediatrics. 104: 406-9. PMID 6423791  0.075
1970 Moser HW. A new inborn lysosomal disease. The New England Journal of Medicine. 282: 337-8. PMID 5410820 DOI: 10.1056/NEJM197002052820611  0.074
1991 Hodge VJ, Gould SJ, Subramani S, Moser HW, Krisans SK. Normal cholesterol synthesis in human cells requires functional peroxisomes. Biochemical and Biophysical Research Communications. 181: 537-41. PMID 1755834 DOI: 10.1016/0006-291X(91)91222-X  0.074
1986 Sacktor NC, Griffin J, Moser AB, Moser HW. Effects of subperineurial injections of very-long-chain and medium-chain fatty acids into rat sciatic nerve. Neurochemical Pathology. 5: 71-83. PMID 3561895 DOI: 10.1007/Bf03028037  0.074
1996 Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Denis S, Wanders RJ. Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. Biochemical and Biophysical Research Communications. 229: 205-10. PMID 8954107 DOI: 10.1006/bbrc.1996.1781  0.074
1986 Wolff J, Nyhan WL, Powell H, Takahashi D, Hutzler J, Hajra AK, Datta NS, Singh I, Moser HW. Myopathy in an infant with a fatal peroxisomal disorder. Pediatric Neurology. 2: 141-6. PMID 3508688 DOI: 10.1016/0887-8994(86)90004-4  0.074
1979 Moser HW, Batshaw ML, Murray C, Braine H, Brusilow SW. Management of heritable disorders of the urea cycle and of Refsum's and Fabry's diseases. Progress in Clinical and Biological Research. 34: 183-200. PMID 93755  0.073
1985 Hajra AK, Datta NS, Jackson LG, Moser AB, Moser HW, Larsen JW, Powers J. Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome. The New England Journal of Medicine. 312: 445-6. PMID 3969102 DOI: 10.1056/NEJM198502143120717  0.072
1987 Barth PG, Schutgens RB, Wanders RJ, Heymans HS, Moser AE, Moser HW, Bleeker-Wagemakers EM, Jansonius-Schultheiss K, Derix M, Nelck GF. A sibship with a mild variant of Zellweger syndrome. Journal of Inherited Metabolic Disease. 10: 253-9. PMID 3123783  0.072
1979 Brown MJ, Iwamori M, Kishimoto Y, Ostroff SM, Moser HW, Asbury AK. Endoneurial lipid composition of normal human sural nerve. Annals of Neurology. 5: 239-44. PMID 443756 DOI: 10.1002/Ana.410050305  0.072
2001 Williard DE, Nwankwo JO, Kaduce TL, Harmon SD, Irons M, Moser HW, Raymond GV, Spector AA. Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. Journal of Lipid Research. 42: 501-8. PMID 11290821  0.071
1998 Périchon R, Moser AB, Wallace WC, Cunningham SC, Roth GS, Moser HW. Peroxisomal disease cell lines with cellular plasmalogen deficiency have impaired muscarinic cholinergic signal transduction activity and amyloid precursor protein secretion. Biochemical and Biophysical Research Communications. 248: 57-61. PMID 9675085 DOI: 10.1006/bbrc.1998.8909  0.071
1985 Palmer M, Green WR, Maumenee IH, Valle DL, Singer HS, Morton SJ, Moser HW. Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies. Archives of Ophthalmology (Chicago, Ill. : 1960). 103: 817-22. PMID 4004622 DOI: 10.1001/Archopht.1985.01050060077030  0.071
1997 Kickler TS, Zinkham WH, Moser A, Shankroff J, Borel J, Moser H. Effect of erucic acid on platelets in patients with adrenoleukodystrophy. Biochemical and Molecular Medicine. 57: 125-33. PMID 8733890 DOI: 10.1006/BMME.1996.0018  0.071
1985 Mayer R, Toyoshima E, Yeager A, Moser H. The pathophysiology of peripheral neuropathy in mouse (twitcher) globoid cell leukodystrophy Electroencephalography and Clinical Neurophysiology. 61: S20. DOI: 10.1016/0013-4694(85)90112-9  0.071
1980 Ullman MD, Pyeritz RE, Moser HW, Wenger DA, Kolodny EH. Application of "high-performance" liquid chromatography to the study of sphingolipidoses. Clinical Chemistry. 26: 1499-503. PMID 6773701 DOI: 10.1093/Clinchem/26.10.1499  0.07
1990 Moser HW, Moser AB, Chen WW, Watkins PA. Adrenoleukodystrophy and Zellweger syndrome. Progress in Clinical and Biological Research. 321: 511-35. PMID 2183241  0.07
1982 O'Neill BP, Moser HW, Marmion LC. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred. Neurology. 32: 540-2. PMID 6280106  0.068
1999 Moser HW. Peroxisomal disorders. Molecular defects, genotype-phenotype correlations and therapy. Le Journal Mã©Dical Libanais. the Lebanese Medical Journal. 47: 18-21. PMID 10570899  0.067
1995 Moser HW. Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Journal of Neuropathology and Experimental Neurology. 54: 740-5. PMID 7666063  0.067
1974 Moser HW, O'Brien JS, Atkins L, Fuller TC, Kliman A, Janowska S, Russell PS, Bartsocas CS, Cosimi B, Dulaney JT. Infusion of normal HL-A identical leukocytes in Sanfilippo disease type B. Estimate of infused cell survival by assays of alpha-N-acetylglucosaminidase activity and cytogenetic techniques: effect on glycosaminoglycan excretion in the urine. Archives of Neurology. 31: 329-37. PMID 4278147 DOI: 10.1001/archneur.1974.00490410077009  0.067
1993 Sack GH, Alpern M, Webster T, Feil RP, Morrell JC, Chen G, Chen W, Caskey CT, Moser HW. Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis. Proceedings of the National Academy of Sciences of the United States of America. 90: 9489-93. PMID 8415728  0.065
1988 Naidu S, Moser AE, Moser HW. Phenotypic and genotypic variability of generalized peroxisomal disorders. Pediatric Neurology. 4: 5-12. PMID 3069099  0.065
1984 Moser HW, Moser AE, Singh I, O'Neill BP. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Annals of Neurology. 16: 628-41. PMID 6524872 DOI: 10.1002/ana.410160603  0.064
1958 Moser H, Karnovsky ML. Studies on the biosynthesis of cerebroside galactose Neurology. 8: 81-83. PMID 13541617  0.064
1982 Brown FR, Van Duyn MA, Moser AB, Schulman JD, Rizzo WB, Snyder RD, Murphy JV, Kamoshita S, Migeon CJ, Moser HW. Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids. The Johns Hopkins Medical Journal. 151: 164-72. PMID 7120720  0.063
1982 Philippart M, Nuwer MR, Mortier W, Moser HW. Value of C26:O fatty acid determination for the diagnosis of atypical adrenoleukodystrophy. Annals of Neurology. 11: 105. PMID 6277233 DOI: 10.1002/ana.410110121  0.063
1983 Luckenbach MW, Green WR, Miller NR, Moser HW, Clark AW, Tennekoon G. Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. American Journal of Ophthalmology. 95: 369-82. PMID 6829683 DOI: 10.1016/S0002-9394(14)78308-4  0.062
1967 Moser HW, Efron ML, Brown H, Diamond R, Neumann CG. Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. The American Journal of Medicine. 42: 9-26. PMID 6016480 DOI: 10.1016/0002-9343(67)90003-4  0.062
1981 Moser HW, Moser AE, Van Duyn MA, Stowens D, Barranger J, Schulman JP, Kennedy JF. 1167 ADRENOLEUKODYSTROPHY: ABOVE NORMAL LEVELS OF VERY LONG CHAIN FATTY ACIDS IN PLASMA Pediatric Research. 15: 637-637. DOI: 10.1203/00006450-198104001-01193  0.062
1986 Murphy M, Naidu S, Moser HW. Rett syndrome--observational study of 33 families. American Journal of Medical Genetics. Supplement. 1: 73-6. PMID 3087205  0.062
1984 Singh I, Moser AE, Moser HW, Kishimoto Y. Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes. Pediatric Research. 18: 286-90. PMID 6728562 DOI: 10.1203/00006450-198403000-00016  0.061
1999 Zhang Z, Suzuki Y, Shimozawa N, Fukuda S, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Wanders RJ, Barth PG, Moser HW, Paton BC, Besley GT, Kondo N. Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. Human Mutation. 13: 487-96. PMID 10408779 DOI: 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T  0.061
1978 Friedman RB, Williams MA, Moser HW, Kolodny EH. Improved thin-layer chromatographic method in the diagnosis of mannosidosis. Clinical Chemistry. 24: 1576-7. PMID 688621 DOI: 10.1093/Clinchem/24.9.1576  0.061
1999 Moser HW. Genotype-phenotype correlations in disorders of peroxisome biogenesis. Molecular Genetics and Metabolism. 68: 316-27. PMID 10527683 DOI: 10.1006/mgme.1999.2926  0.061
1971 Murphy JV, Williams M, Moser HW, Michaels R. Multiple sulfatase deficencies, the enzymatic basis of a new disorder Pediatric Research. 5: 372-372. DOI: 10.1203/00006450-197108000-00007  0.06
1994 Moser HW. Gene therapy in neurology. European Neurology. 34: 241-2. PMID 7995297  0.06
1980 Yahara S, Moser HW, Kolodny EH, Kishimoto Y. Reverse phase high-performance liquid chromatography of cerebrosides,sulfatides, and ceramides: microanalysis of homolog composition without hydrolysis and application to cerebroside analysis in peripheral nerves of adrenoleukodystrophy pateints. Journal of Neurochemistry. 34: 694-9. PMID 7354342 DOI: 10.1111/J.1471-4159.1980.Tb11199.X  0.06
1969 Shih VE, Efron ML, Moser HW. Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. American Journal of Diseases of Children (1960). 117: 83-92. PMID 5782534  0.059
1993 Zinkham WH, Kickler T, Borel J, Moser HW. Lorenzo's oil and thrombocytopenia in patients with adrenoleukodystrophy. The New England Journal of Medicine. 328: 1126-7. PMID 8455677 DOI: 10.1056/NEJM199304153281513  0.058
1993 Fiumara A, Nigro F, Pavone L, Moser HW. Farber disease with prolonged survival. Journal of Inherited Metabolic Disease. 16: 915-6. PMID 8295420  0.058
1978 Kawamura N, Moser HW, Kishimoto Y, Schaumburg H, Suzuki K, Murphy J. Excess C-26 fatty acid in cultured skin fibroblasts from adrenoleukodystrophy and adrenomyeloneuropathy patients. Transactions of the American Neurological Association. 103: 113-5. PMID 757032  0.057
1985 Boué J, Oberle I, Heilig R, Mandel JL, Moser A, Moser H, Larsen JW, Dumez Y, Boué A. First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. Human Genetics. 69: 272-4. PMID 3856557 DOI: 10.1007/BF00293039  0.057
1984 Singh I, Moser AE, Goldfischer S, Moser HW. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proceedings of the National Academy of Sciences of the United States of America. 81: 4203-7. PMID 6588384  0.056
1996 EFRON ML, YOUNG D, MOSER HW, MACCREADY RA. A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER. The New England Journal of Medicine. 270: 1378-83. PMID 14152868 DOI: 10.1056/NEJM196406252702602  0.056
1994 Blevins LS, Shankroff J, Moser HW, Ladenson PW. Elevated plasma adrenocorticotropin concentration as evidence of limited adrenocortical reserve in patients with adrenomyeloneuropathy. The Journal of Clinical Endocrinology and Metabolism. 78: 261-5. PMID 8106609 DOI: 10.1210/jcem.78.2.8106609  0.056
1992 Lazarow PB, Moser HW, Santos MJ. Chapter 18 Lessons for peroxisome biogenesis from fluorescence analyses of Zellweger syndrome fibroblasts New Comprehensive Biochemistry. 22: 231-237. DOI: 10.1016/S0167-7306(08)60095-2  0.056
1996 Natowicz MR, Evans JE, Kelley RI, Moser AB, Watkins PA, Moser HW. Urinary bile acids and peroxisomal bifunctional enzyme deficiency. American Journal of Medical Genetics. 63: 356-62. PMID 8725785 DOI: 10.1002/(SICI)1096-8628(19960517)63:2<356::AID-AJMG6>3.0.CO;2-R  0.056
1980 Pyeritz RE, Ullman MD, Moser AB, Braine HG, Moser HW. Plasma exchange removes glycosphingolipid in Fabry disease. American Journal of Medical Genetics. 7: 301-7. PMID 6781344 DOI: 10.1002/ajmg.1320070308  0.055
1991 Gärtner J, Chen WW, Kelley RI, Mihalik SJ, Moser HW. The 22-kD peroxisomal integral membrane protein in Zellweger syndrome--presence, abundance, and association with a peroxisomal thiolase precursor protein. Pediatric Research. 29: 141-6. PMID 1673025 DOI: 10.1203/00006450-199102000-00007  0.055
1999 Powers JM, Kenjarski TP, Moser AB, Moser HW. Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. Acta Neuropathologica. 98: 129-34. PMID 10442551  0.055
2001 Matsumoto N, Tamura S, Moser A, Moser HW, Braverman N, Suzuki Y, Shimozawa N, Kondo N, Fujiki Y. The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. Journal of Human Genetics. 46: 273-7. PMID 11355018 DOI: 10.1007/s100380170078  0.054
1976 Lott IT, DiPaolo R, Schwartz D, Kanfer JN, Moser HW. The pathogenesis and treatment of copper deficiency in steely-hair syndrome. Transactions of the American Neurological Association. 100: 151-4. PMID 1226595  0.053
1965 Moser HW, McKhann GM, Moser AE. Sulfate metabolism in metachromatic leukodystrophy. Transactions of the American Neurological Association. 89: 229-31. PMID 5828511  0.053
1969 Shih VE, Littlefield JW, Moser HW. Argininosuccinase deficiency in fibroblasts cultured from patients with argininosuccinic aciduria Biochemical Genetics. 3: 81-83. DOI: 10.1007/BF00485974  0.053
1981 Kawamura N, Moser HW, Kishimoto Y. Very long chain fatty acid oxidation in rat liver. Biochemical and Biophysical Research Communications. 99: 1216-25. PMID 7259776  0.053
1976 Iwamori M, Moser HW, Kishimoto Y. Solubilization and partial purification of steroid sulfatase from rat liver: characterization of estrone sulfatase. Archives of Biochemistry and Biophysics. 174: 199-208. PMID 7200 DOI: 10.1016/0003-9861(76)90339-8  0.053
1985 Solish GI, Moser HW, Ringer LD, Moser AE, Tiffany C, Schutta E. The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger. Prenatal Diagnosis. 5: 27-34. PMID 3975221 DOI: 10.1002/pd.1970050106  0.053
1999 Moser HW. [Therapeutic strategies for peroxisomal disorders]. Revista De Neurologia. 28: S65-9. PMID 10778492  0.053
1999 Leung W, Blakemore K, Jones RJ, Moser HW, Mukherjee G, Griffin CA, Rosenblum-Vos LS, Civin CI. A human-murine chimera model for in utero human hematopoietic stem cell transplantation. Biology of Blood and Marrow Transplantation : Journal of the American Society For Blood and Marrow Transplantation. 5: 1-7. PMID 10232735 DOI: 10.1053/Bbmt.1999.V5.Pm10232735  0.052
1990 McGuinness MC, Moser AB, Moser HW, Watkins PA. Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. Biochemical and Biophysical Research Communications. 172: 364-9. PMID 2222480  0.052
1981 Chen WW, Moser AB, Moser HW. Role of lysosomal acid ceramidase in the metabolism of ceramide in human skin fibroblasts. Archives of Biochemistry and Biophysics. 208: 444-55. PMID 7259198  0.052
1992 Moser HW. Therapy of peroxisomal disorders. Progress in Clinical and Biological Research. 375: 369-88. PMID 1365700  0.052
1984 Chaussain JL, Donnadieu M, Moser AE, Moser HW. Measurement of plasma very long chain fattyacids (LCFA) in children with Addison's disease (AD) Pediatric Research. 18: 1225-1225. DOI: 10.1203/00006450-198411000-00145  0.051
1986 Frank K, Schrecker O, Brosi K, Krause KH, Vescei P, Moser HW, Ziegler R. [Adrenomyeloneuropathy, a rare cause of primary adrenal cortex insufficiency]. Deutsche Medizinische Wochenschrift (1946). 111: 1519-22. PMID 3019625 DOI: 10.1055/s-2008-1068664  0.051
1979 Iwamori M, Costello C, Moser HW. Analysis and quantitation of free ceramide containing nonhydroxy and 2-hydroxy fatty acids, and phytosphingosine by high-performance liquid chromatography. Journal of Lipid Research. 20: 86-96. PMID 438657  0.05
1998 Moser HW, Moser AB, Frayer KK, Chen W, Schulman JD, O'Neill BP, Kishimoto Y. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. 1981. Neurology. 51: 334 and 9 pages foll. PMID 9709997  0.05
1981 Moser HW, Moser AB, Frayer KK, Chen W, Schulman JD, O'Neill BP, Kishimoto Y. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology. 31: 1241-9. PMID 7202134  0.05
1987 Pampols T, Ribes A, Pineda M, Ballester A, Fernández-Alvarez E, Moser AE, Moser HW. Medium chain dicarboxylic and hydroxydicarboxylic aciduria in a case of neonatal adrenoleukodystrophy Journal of Inherited Metabolic Disease. 10: 217-219. DOI: 10.1007/BF01811409  0.048
1985 Zarbin MA, Green WR, Moser HW, Morton SJ. Farber's disease. Light and electron microscopic study of the eye. Archives of Ophthalmology (Chicago, Ill. : 1960). 103: 73-80. PMID 2983648  0.048
1980 Pavone L, Moser HW, Mollica F, Reitano C, Durand P. Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. The Johns Hopkins Medical Journal. 147: 193-6. PMID 7441940  0.048
1997 Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain : a Journal of Neurology. 120: 1485-508. PMID 9278636  0.047
1986 Toyoshima E, Yeager AM, Brennan S, Santos GW, Moser HW, Mayer RF. Nerve conduction studies in the Twitcher mouse (murine globoid cell leukodystrophy). Journal of the Neurological Sciences. 74: 307-18. PMID 3525759 DOI: 10.1016/0022-510X(86)90116-4  0.047
1986 Yeager AM, Moser HW, Tutschka PJ, Saral R, Moser AE, Kumar AA, Santos GW. Allogeneic bone marrow transplantation in adrenoleukodystrophy: clinical, pathologic, and biochemical studies. Birth Defects Original Article Series. 22: 79-100. PMID 3516244  0.046
1968 Cohn GH, Ouellette EM, Moser HW, Efron ML. Atypical phenylketonuria in a seven-year-old profoundly retarded girl: development of phenylalanine tolerance, in spite of apparently continued failure to convert phenylalanine to tyrosine. Neurology. 18: 310-1. PMID 5690427  0.046
1991 Aikawa J, Chen WW, Kelley RI, Tada K, Moser HW, Chen GL. Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. Proceedings of the National Academy of Sciences of the United States of America. 88: 10084-8. PMID 1946426  0.046
1997 Bambach BJ, Moser HW, Blakemore K, Corson VL, Griffin CA, Noga SJ, Perlman EJ, Zuckerman R, Wenger DA, Jones RJ. Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy. Bone Marrow Transplantation. 19: 399-402. PMID 9051254 DOI: 10.1038/sj.bmt.1700665  0.046
1993 Rizzo WB, Craft DA, Judd LL, Moser HW, Moser AB. Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. Biochemical Medicine and Metabolic Biology. 50: 93-102. PMID 8373640  0.045
2003 Zhang LX, Bakshi R, Fine E, Moser HW. Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment. Journal of Neurology, Neurosurgery, and Psychiatry. 74: 822-3. PMID 12754367  0.045
1999 de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ. Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. Journal of Lipid Research. 40: 1998-2003. PMID 10553003  0.044
1996 OJEMANN RG, MOSER HW. ACUTE BILATERAL INTERNAL CAROTID ARTERY OCCLUSION; REPORT OF A CASE FOLLOWING A PARACHUTE JUMP. Neurology. 14: 565-8. PMID 14161756 DOI: 10.1212/WNL.14.6.565  0.043
1983 Marler JR, O'Neill BP, Forbes GS, Moser HW. Adrenoleukodystrophy (ALD): clinical and CT features of a childhood variant. Neurology. 33: 1203-5. PMID 6684256 DOI: 10.1212/WNL.33.9.1203  0.042
1992 Moser HW. New concepts in the diagnosis and treatment of lysosomal and peroxisomal disorders. Current Opinion in Neurology and Neurosurgery. 5: 355-8. PMID 1623264  0.041
1986 Wanders RJA, Schrakamp G, van den Bosch H, Tager JM, Moser HW, Moser AE, Aubourg P, Kleijer WJ, Schutgens RBH. Pre- and postnatal diagnosis of the cerebrohepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence of absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts Journal of Inherited Metabolic Disease. 9: 317-320. DOI: 10.1007/BF01799740  0.041
1999 Brookhyser KM, Lipson MH, Moser AB, Moser HW, Lachman RS, Rimoin DL. Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. Prenatal Diagnosis. 19: 383-5. PMID 10327148 DOI: 10.1002/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S  0.041
1975 Iwamori M, Moser HW, Kishimoto Y. Specific tritium labeling of cerebrosides at the 3-positions of erythro-sphingosine and threo-sphingosine. Journal of Lipid Research. 16: 332-6. PMID 1170270  0.041
1996 Moser HW, Moser AB. Peroxisomal disorders: overview. Annals of the New York Academy of Sciences. 804: 427-41. PMID 8993562  0.041
1996 Moser HW. Peroxisomal disorders. Seminars in Pediatric Neurology. 3: 298-304. PMID 8969011  0.041
1994 Naidu S, Moser HW. Peroxisomal disorders. Neurologic Clinics. 12: 727-39. PMID 7845339  0.041
1991 Moser HW. Peroxisomal disorders. Clinical Biochemistry. 24: 343-51. PMID 1959226  0.041
1991 Moser HW, Bergin A, Cornblath D. Peroxisomal disorders. Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire. 69: 463-74. PMID 1724376  0.041
1990 Naidu S, Moser HW. Peroxisomal disorders. Neurologic Clinics. 8: 507-28. PMID 2215454  0.041
1986 Moser HW. Peroxisomal disorders. The Journal of Pediatrics. 108: 89-91. PMID 2418188 DOI: 10.1016/s0022-3476(86)80774-0  0.041
1985 Moser HW, Goldfischer SL. The peroxisomal disorders. Hospital Practice (Office Ed.). 20: 61-70. PMID 3928646  0.041
1992 Zoeller R, Rangaswamy S, Herscovitz H, Rizzo W, Hajra A, Das A, Moser H, Moser A, Lazarow P, Santos M. Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes. Journal of Biological Chemistry. 267: 8299-8306. DOI: 10.1016/s0021-9258(18)42442-8  0.041
1996 Moser HW. Pathogenetic mechanisms in peroxisomal disorders. Current Opinion in Neurology. 9: 473-6. PMID 9007408  0.041
1999 van Grunsven EG, van Berkel E, Mooijer PA, Watkins PA, Moser HW, Suzuki Y, Jiang LL, Hashimoto T, Hoefler G, Adamski J, Wanders RJ. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. American Journal of Human Genetics. 64: 99-107. PMID 9915948 DOI: 10.1086/302180  0.04
1966 Moser HW, Moser AB, Orr JC. Preliminary observations on the occurrence of cholesterol sulfate in man. Biochimica Et Biophysica Acta. 116: 146-55. PMID 5942449 DOI: 10.1016/0005-2760(66)90100-7  0.038
1984 Kelley RI, Moser HW. Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. American Journal of Medical Genetics. 19: 791-5. PMID 6517102 DOI: 10.1002/ajmg.1320190420  0.038
1967 Joel CD, Moser HW, Majno G, Karnovsky ML. Effects of bis-(monoisopropylamino)-fluorophosphine oxide (Mipafox) and of starvation on the lipids in the nervous system of the hen. Journal of Neurochemistry. 14: 479-88. PMID 6025618 DOI: 10.1111/j.1471-4159.1967.tb09547.x  0.038
1981 Singh I, Moser HW, Moser AB, Kishimoto Y. Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex. Biochemical and Biophysical Research Communications. 102: 1223-9. PMID 6797420  0.038
1998 Moser HW, Raymond GV. Genetic peroxisomal disorders: why, when, and how to test. Annals of Neurology. 44: 713-5. PMID 9818924 DOI: 10.1002/ana.410440502  0.038
1978 Kawamura N, Moser AB, Moser HW, Ogino T, Suzuki K, Schaumburg H, Milunsky A, Murphy J, Kishimoto Y. High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochemical and Biophysical Research Communications. 82: 114-20. PMID 666828  0.037
1969 Moser H. Transitions of metabolic states of animal cells Archiv Der Julius Klaus-Stiftung Fur Vererbungsforschung, Sozialanthropologie Und Rassenhygiene. 44: suppl 28-47. PMID 5409252  0.037
1988 Hoefler S, Hoefler G, Moser AB, Watkins PA, Chen WW, Moser HW. Prenatal diagnosis of rhizomelic chondrodysplasia punctata. Prenatal Diagnosis. 8: 571-6. PMID 3205862  0.036
1996 Chaudhry V, Moser HW, Cornblath DR. Nerve conduction studies in adrenomyeloneuropathy. Journal of Neurology, Neurosurgery, and Psychiatry. 61: 181-5. PMID 8708687  0.036
2000 Powers JM, DeCiero DP, Ito M, Moser AB, Moser HW. Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. Journal of Neuropathology and Experimental Neurology. 59: 89-102. PMID 10749098  0.035
1987 Moser HW. New approaches in peroxisomal disorders. Developmental Neuroscience. 9: 1-18. PMID 3297624  0.035
1992 Krivit W, Shapiro E, Hoogerbrugge PM, Moser HW. State of the art review. Bone marrow transplantation treatment for storage diseases. Keystone. January 23, 1992. Bone Marrow Transplantation. 10: 87-96. PMID 1521098  0.034
2001 Su HM, Moser AB, Moser HW, Watkins PA. Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis. The Journal of Biological Chemistry. 276: 38115-20. PMID 11500517 DOI: 10.1074/jbc.M106326200  0.034
2000 Moser HW. Molecular genetics of peroxisomal disorders. Frontiers in Bioscience : a Journal and Virtual Library. 5: D298-306. PMID 10704429  0.034
1980 Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Annals of Neurology. 7: 542-9. PMID 7436359 DOI: 10.1002/ana.410070607  0.032
1981 Moser HW, Migeon BR, Norum RA, Moser AE, Sprenkle JA, Kennedy JF. 743 PRENATAL IDENTIFICATION OF AN ADRENOLEUKODYSTROPHY HETEROZYGOTE Pediatric Research. 15: 566-566. DOI: 10.1203/00006450-198104001-00766  0.032
1982 Young RS, Ramer JC, Towfighi J, Weidner W, Lehman R, Moser HW. Adrenoleukodystrophy: unusual computed tomographic appearance. Archives of Neurology. 39: 782-3. PMID 7138324  0.032
1988 Aubourg PR, Sack GH, Moser HW. Frequent alterations of visual pigment genes in adrenoleukodystrophy. American Journal of Human Genetics. 42: 408-13. PMID 2894755  0.031
1993 Moser HW. Lorenzo oil therapy for adrenoleukodystrophy: a prematurely amplified hope. Annals of Neurology. 34: 121-2. PMID 8338333 DOI: 10.1002/ana.410340202  0.03
1985 O'Neill BP, Swanson JW, Brown FR, Griffin JW, Moser HW. Familial spastic paraparesis: an adrenoleukodystrophy phenotype? Neurology. 35: 1233-5. PMID 4022363 DOI: 10.1212/WNL.35.8.1233  0.03
1980 Moser HW, Moser AB, Kawamura N, Migeon B, O'Neill BP, Fenselau C, Kishimoto Y. Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. The Johns Hopkins Medical Journal. 147: 217-24. PMID 7453002  0.029
1984 Yeager AM, Brennan S, Tiffany C, Moser HW, Santos GW. Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. Science (New York, N.Y.). 225: 1052-4. PMID 6382609  0.027
1996 Distel B, Erdmann R, Gould SJ, Blobel G, Crane DI, Cregg JM, Dodt G, Fujiki Y, Goodman JM, Just WW, Kiel JA, Kunau WH, Lazarow PB, Mannaerts GP, Moser HW, et al. A unified nomenclature for peroxisome biogenesis factors. The Journal of Cell Biology. 135: 1-3. PMID 8858157 DOI: 10.1083/Jcb.135.1.1  0.027
2004 Moser HW. Genetic causes of mental retardation. Annals of the New York Academy of Sciences. 1038: 44-8. PMID 15838096 DOI: 10.1196/annals.1315.010  0.026
1992 Powers JM, Liu Y, Moser AB, Moser HW. The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications. Journal of Neuropathology and Experimental Neurology. 51: 630-43. PMID 1362438  0.026
1989 Sack GH, Raven MB, Moser HW. Color vision defects in adrenomyeloneuropathy. American Journal of Human Genetics. 44: 794-8. PMID 2729274  0.026
1967 Moser HW, Moser AB, McKhann GM. The dynamics of a lipidosis. Turnover of sulfatide, steroid sulfate, and polysaccharide sulfate in metachromatic leukodystrophy. Archives of Neurology. 17: 494-511. PMID 6054606 DOI: 10.1001/ARCHNEUR.1967.00470290048008  0.026
1981 Brown FR, Shimizu H, McDonald JM, Moser AB, Marquis P, Chen WW, Moser HW. Auditory evoked brainstem response and high-performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy. Neurology. 31: 980-5. PMID 6115337  0.026
1993 Moser HW. Lorenzo's oil. Lancet. 341: 544. PMID 8094785  0.025
2000 Lachtermacher MB, Seuanez HN, Moser HW, Smith KD. One-step multiplex PCR strategy for identification of mutations by SSCP and DNA sequencing. Biotechniques. 29: 234-6. PMID 10948421 DOI: 10.2144/00292Bm06  0.024
2001 Berger J, Moser HW, Forss-Petter S. Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment. Current Opinion in Neurology. 14: 305-12. PMID 11371752  0.023
1987 Hofman KJ, Naidu S, Moser HW, Maumenee IH, Wenger DA. Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency. Journal of Inherited Metabolic Disease. 10: 273-4. PMID 3123790  0.022
1987 Cotrufo R, Melone MA, Monsurro MR, Di Iorio G, Carella C, Moser HW. Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy. American Journal of Medical Genetics. 26: 833-8. PMID 3591825 DOI: 10.1002/ajmg.1320260410  0.02
1994 Moser HW. Suspended judgment. Reactions to the motion picture "Lorenzo's Oil". Controlled Clinical Trials. 15: 161-4. PMID 8039403  0.02
1997 Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593 Pediatric Research. 41: 101-101. DOI: 10.1203/00006450-199704001-00613  0.02
1994 Azuma N, O'Brien JS, Moser HW, Kishimoto Y. Stimulation of acid ceramidase activity by saposin D. Archives of Biochemistry and Biophysics. 311: 354-7. PMID 8203897  0.02
1983 Moser HW, Moser AE, Trojak JE, Supplee SW. Identification of female carriers of adrenoleukodystrophy. The Journal of Pediatrics. 103: 54-9. PMID 6864396  0.018
2007 Moser HW, Mahmood A. New insights about hematopoietic stem cell transplantation in adrenoleukodystrophy. Archives of Neurology. 64: 631-2. PMID 17502460 DOI: 10.1001/archneur.64.5.631  0.015
1995 Moser HW. Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome. Journal of Inherited Metabolic Disease. 18: 435-47. PMID 7494402 DOI: 10.1007/BF00710055  0.014
1976 Brown MJ, Iwamori M, Rapoport B, Kishimoto Y, Moser H, Asbury AK. HUMAN DIABETIC NEUROPATHY Journal of Neuropathology and Experimental Neurology. 35: 336. DOI: 10.1097/00005072-197605000-00081  0.014
1983 Sayce O, Tervooren H, Moser H. Des Minnesangs Fruhling The Modern Language Review. 78: 740. DOI: 10.2307/3730304  0.013
1987 Aubourg PR, Sack GH, Meyers DA, Lease JJ, Moser HW. Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Annals of Neurology. 21: 349-52. PMID 2883927 DOI: 10.1002/ana.410210406  0.01
1994 Kaplan PW, Tusa R, Shankroff J, Heller J, Moser H. Reply Annals of Neurology. 36: 117-117. DOI: 10.1002/ana.410360127  0.01
1999 Moser HW. [The peroxisome: structure, function and biogenesis]. Revista De Neurologia. 28: S37-9. PMID 10778486  0.01
1999 Moser HW. Abstracts from the Eighteenth Annual Conference of the United Leukodystrophy Foundation Journal of Molecular Neuroscience. 13: 247-268. DOI: 10.1385/JMN:13:3:247  0.01
1999 Moser HW. Abstracts from the Eighteenth Annual Conference of the United Leukodystrophy Foundation Journal of Molecular Neuroscience. 13: 233-246. DOI: 10.1385/JMN:13:3:233  0.01
1999 Moser HW. Abstracts from the Eighteenth Annual Conference of the United Leukodystrophy Foundation Journal of Molecular Neuroscience. 13: 219-232. DOI: 10.1385/JMN:13:3:219  0.01
1999 Moser HW. Abstracts from the Eighteenth Annual Conference of the United Leukodystrophy Foundation Journal of Molecular Neuroscience. 13: 211-218. DOI: 10.1385/JMN:13:3:211  0.01
1998 Moser HW. Commentary Neurology. 51: 334.1-334. DOI: 10.1212/wnl.51.2.334  0.01
1995 Moser HW. A question of culture. Nature Medicine. 1: 24-5. PMID 7584947  0.01
1987 Moser HW. Adrenoleukodystrophy: from bedside to molecular biology. Journal of Child Neurology. 2: 140-50. PMID 3598142  0.01
1987 Moser HW. Recollections about Sterling Garrard. Mental Retardation. 25: 195. PMID 3306272  0.01
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