| Year |
Citation |
Score |
| 2020 |
Thoene JG, DelMonte MA, Mullet J. Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea. Molecular Genetics and Metabolism Reports. 23: 100587. PMID 32280591 DOI: 10.1016/j.ymgmr.2020.100587 |
0.307 |
|
| 2013 |
Thoene J, Goss T, Witcher M, Mullet J, N'Kuli F, Van Der Smissen P, Courtoy P, Hahn SH. In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells. Molecular Genetics and Metabolism. 109: 77-85. PMID 23465695 DOI: 10.1016/J.Ymgme.2013.01.014 |
0.401 |
|
| 2011 |
Thoene J, Witcher M, Mullet J. Sf9 cell vesicle-mediated correction of cystine storage in cystinotic fibroblasts and sialic acid storage in infantile sialic acid storage disease fibroblasts Molecular Genetics and Metabolism. 102: S42-S43. DOI: 10.1016/J.Ymgme.2010.11.143 |
0.324 |
|
| 2010 |
Vitvitsky V, Witcher M, Banerjee R, Thoene J. The redox status of cystinotic fibroblasts. Molecular Genetics and Metabolism. 99: 384-8. PMID 20061170 DOI: 10.1016/J.Ymgme.2009.12.010 |
0.378 |
|
| 2006 |
Park MA, Pejovic V, Kerisit KG, Junius S, Thoene JG. Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta. Journal of the American Society of Nephrology : Jasn. 17: 3167-75. PMID 17021265 DOI: 10.1681/ASN.2006050474 |
0.336 |
|
| 2005 |
Park MA, Thoene JG. Potential role of apoptosis in development of the cystinotic phenotype. Pediatric Nephrology (Berlin, Germany). 20: 441-6. PMID 15622500 DOI: 10.1007/s00467-004-1712-9 |
0.356 |
|
| 2004 |
Helip-Wooley A, Thoene JG. Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes. Experimental Cell Research. 292: 89-100. PMID 14720509 DOI: 10.1016/J.Yexcr.2003.09.003 |
0.612 |
|
| 2002 |
Park M, Helip-Wooley A, Thoene J. Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. Journal of the American Society of Nephrology : Jasn. 13: 2878-87. PMID 12444206 DOI: 10.1097/01.Asn.0000036867.49866.59 |
0.601 |
|
| 2002 |
Helip-Wooley A, Park MA, Lemons RM, Thoene JG. Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. Molecular Genetics and Metabolism. 75: 128-33. PMID 11855931 DOI: 10.1006/mgme.2001.3272 |
0.608 |
|
| 2001 |
Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. CTNS mutations in African American patients with cystinosis. Molecular Genetics and Metabolism. 74: 332-7. PMID 11708862 DOI: 10.1006/Mgme.2001.3218 |
0.361 |
|
| 2000 |
Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatric Research. 47: 17-23. PMID 10625078 DOI: 10.1203/00006450-200001000-00007 |
0.403 |
|
| 2000 |
Thoene J, Lemons R. Correction of the Cystinotic Phenotype in Cultured Cells by an Aminoglycoside Genetics in Medicine. 2: 74-74. DOI: 10.1097/00125817-200001000-00082 |
0.466 |
|
| 1999 |
Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT. Mutations of CTNS causing intermediate cystinosis. Molecular Genetics and Metabolism. 67: 283-93. PMID 10444339 DOI: 10.1006/Mgme.1999.2876 |
0.365 |
|
| 1998 |
Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. CTNS mutations in an American-based population of cystinosis patients. American Journal of Human Genetics. 63: 1352-62. PMID 9792862 DOI: 10.1086/302118 |
0.394 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 1985 |
Pisoni R, Thoene J, Christensen H. 846 LYSOSOMAL AMINO ACID TRANSPORT: DESCRIPTION OF A NEW SYSTEM Pediatric Research. 19: 251A-251A. DOI: 10.1203/00006450-198504000-00876 |
0.297 |
|
| 1978 |
Thoene JG, Oshima RG, Ritchie DG, Schneider JA. Cystinotic fibroblasts accumulate cystine from intracellular protein degradation. Proceedings of the National Academy of Sciences of the United States of America. 74: 4505-7. PMID 270698 DOI: 10.1073/Pnas.74.10.4505 |
0.282 |
|
| 1977 |
Thoene JG, Ritchie DG, Oshima RG, Schneider JA. CYSTINOTIC FIBROBLASTS ACCUMULATE CYSTINE FROM INTRACELLULAR PROTEIN CATABOLISM Pediatric Research. 11: 465-465. DOI: 10.1203/00006450-197704000-00570 |
0.281 |
|
| 1980 |
Thoene JG, Lemons R. Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin. Pediatric Research. 14: 785-7. PMID 7402752 DOI: 10.1203/00006450-198006000-00001 |
0.276 |
|
| 2010 |
Thoene J, Witcher M. 134. Correction of cystine storage in cystinotic fibroblasts by recombinant cystinosin Molecular Genetics and Metabolism. 99: S35-S36. DOI: 10.1016/J.Ymgme.2009.10.151 |
0.271 |
|
| 1981 |
Thoene J, Baker H, Yoshino M, Sweetman L. Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin. The New England Journal of Medicine. 304: 817-20. PMID 6782477 DOI: 10.1056/Nejm198104023041404 |
0.267 |
|
| 1989 |
Pisoni RL, Lisowski KM, Lemons RM, Thoene JG. Utilization of mercaptoethylgluconamide for depleting human cystinotic fibroblasts of their accumulated lysosomal cystine. Pediatric Research. 26: 73-6. PMID 2771512 DOI: 10.1203/00006450-198907000-00020 |
0.252 |
|
| 2005 |
Thoene JG. Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis. Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences. 37: 8-9. PMID 15719032 |
0.25 |
|
| 2022 |
Ames EG, Thoene JG. Programmed Cell Death in Cystinosis. Cells. 11. PMID 35203319 DOI: 10.3390/cells11040670 |
0.24 |
|
| 1992 |
Pisoni RL, Lemons RM, Paelicke KM, Thoene JG. Description of a selection method highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts. Somatic Cell and Molecular Genetics. 18: 1-6. PMID 1546366 DOI: 10.1007/BF01233444 |
0.239 |
|
| 2023 |
Venkatarangan V, Zhang W, Yang X, Thoene JG, Hahn SH, Li M. ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine. The Journal of Clinical Investigation. PMID 37561577 DOI: 10.1172/JCI169551 |
0.232 |
|
| 1999 |
Thoene JG, Lemons R, Mullet J, Paelicke K, Shu SG, Campbell HT. Mutations Causing Intermediate Cystinosis Pediatric Research. 45: 142A-142A. DOI: 10.1203/00006450-199904020-00842 |
0.228 |
|
| 1983 |
Thoene JG, Lemons RM. Cystine accumulation in cystinotic fibroblasts from free and protein-linked cystine but not cysteine. The Biochemical Journal. 208: 823-30. PMID 6762213 DOI: 10.1042/bj2080823 |
0.225 |
|
| 2006 |
Andersson HC, Narumanchi TC, Cunningham A, Bowdish B, Thoene J. Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita. Molecular Genetics and Metabolism. 88: 3-6. PMID 16311054 DOI: 10.1016/J.Ymgme.2005.10.002 |
0.22 |
|
| 1977 |
Thoene JG, Oshima RG, Crawhall JC, Schneider JA. Cystine Depletion of Cystinotic Cells by Aminothiols Proceedings of the Royal Society of Medicine. 70: 37-40. DOI: 10.1177/00359157770700S314 |
0.22 |
|
| 2005 |
Techakittiroj C, Cunningham A, Hooper PF, Andersson HC, Thoene J. High protein diet mimics hypertyrosinemia in newborn infants. The Journal of Pediatrics. 146: 281-2. PMID 15689925 DOI: 10.1016/J.Jpeds.2004.10.013 |
0.219 |
|
| 1976 |
Thoene JG, Oshima RG, Crawhall JC, Olson DL, Schneider JA. Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. The Journal of Clinical Investigation. 58: 180-9. PMID 932205 DOI: 10.1172/Jci108448 |
0.208 |
|
| 1987 |
Pisoni RL, Thoene JG, Lemons RM, Christensen HN. FURTHER CHARACTERIZATION OF LYSOSOMAL SYSTEM y+ Pediatric Research. 21: 293A-293A. DOI: 10.1203/00006450-198704010-00757 |
0.208 |
|
| 1980 |
Thoene J, Lemon R, Schmickel R. Cystinotic fibroblasts accumulate cystine from albumin in vitro The Journal of Pediatrics. 96: 161. DOI: 10.1016/S0022-3476(80)80374-X |
0.208 |
|
| 2009 |
Pass KA, Thoene J, Watson MS. Emergency preparedness for newborn screening and genetic services. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 455-64. PMID 19444127 DOI: 10.1097/Gim.0B013E3181A959C1 |
0.2 |
|
| 2013 |
Quinonez SC, Leber SM, Martin DM, Thoene JG, Bedoyan JK. Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. Pediatric Neurology. 48: 67-72. PMID 23290025 DOI: 10.1016/j.pediatrneurol.2012.09.013 |
0.199 |
|
| 1985 |
Thoene JG, Lemons R, Boskovich S, Borysko K. Inhibitors of protein synthesis also inhibit lysosomal proteolysis. Studies using cystinotic fibroblasts. The Journal of Clinical Investigation. 75: 370-6. PMID 3973010 DOI: 10.1172/JCI111709 |
0.197 |
|
| 1990 |
Pisoni RL, Acker TL, Lisowski KM, Lemons RM, Thoene JG. A cysteine-specific lysosomal transport system provides a major route for the delivery of thiol to human fibroblast lysosomes: possible role in supporting lysosomal proteolysis. The Journal of Cell Biology. 110: 327-35. PMID 2404990 DOI: 10.1083/jcb.110.2.327 |
0.194 |
|
| 2003 |
Tsilou ET, Thompson D, Lindblad AS, Reed GF, Rubin B, Gahl W, Thoene J, Del Monte M, Schneider JA, Granet DB, Kaiser-Kupfer MI. A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis. The British Journal of Ophthalmology. 87: 28-31. PMID 12488257 DOI: 10.1136/Bjo.87.1.28 |
0.192 |
|
| 1995 |
Pisoni RL, Park GY, Velilla VQ, Thoene JG. Detection and characterization of a transport system mediating cysteamine entry into human fibroblast lysosomes. Specificity for aminoethylthiol and aminoethylsulfide derivatives. The Journal of Biological Chemistry. 270: 1179-84. PMID 7836377 DOI: 10.1074/jbc.270.3.1179 |
0.191 |
|
| 1985 |
Hutchinson RJ, Bunnell K, Thoene JG. Suppression of granulopoietic progenitor cell proliferation by metabolites of the branched-chain amino acids. The Journal of Pediatrics. 106: 62-5. PMID 3965682 DOI: 10.1016/S0022-3476(85)80466-2 |
0.189 |
|
| 1986 |
Lemons RM, Pisoni RL, Christensen HN, Thoene JG. Elevated temperature produces cystine depletion in cystinotic fibroblasts Bba - General Subjects. 884: 429-434. PMID 3778933 DOI: 10.1016/0304-4165(86)90193-5 |
0.187 |
|
| 1981 |
Thoene JG, Lemons RM, Borysko K. 766 CYSTINOTIC FIBROBLASTS ACCUMULATE CYSTINE FROM CYSTINE BUT NOT CYSTEINE RESIDUES OF EXTRACELLULAR PROTEINS Pediatric Research. 15: 570-570. DOI: 10.1203/00006450-198104001-00790 |
0.181 |
|
| 1988 |
Lemons R, Forster S, Thoene J. Protein microinjection by protease permeabilization of fibroblasts. Analytical Biochemistry. 172: 219-27. PMID 2847580 DOI: 10.1016/0003-2697(88)90435-6 |
0.18 |
|
| 1992 |
Wilson JM, Grossman M, Raper SE, Baker JR, Newton RS, Thoene JG. Ex vivo gene therapy of familial hypercholesterolemia. Human Gene Therapy. 3: 179-222. PMID 1391038 DOI: 10.1089/Hum.1992.3.2-179 |
0.175 |
|
| 1987 |
Wittwer CT, Graves CP, Peterson MA, Jorgensen E, Wilson DE, Thoene JG, Wyse BW, Windham CT, Hansen RG. Pantethine lipomodulation: evidence for cysteamine mediation in vitro and in vivo. Atherosclerosis. 68: 41-9. PMID 3689482 DOI: 10.1016/0021-9150(87)90092-X |
0.174 |
|
| 1986 |
McKay N, Petrova-Benedict R, Thoene J, Bergen B, Wilson W, Robinson B. Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme. European Journal of Pediatrics. 144: 445-50. PMID 3082638 DOI: 10.1007/BF00441736 |
0.171 |
|
| 2010 |
Larsen CP, Walker PD, Thoene JG. The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. Molecular Genetics and Metabolism. 101: 417-20. PMID 20826102 DOI: 10.1016/j.ymgme.2010.08.015 |
0.169 |
|
| 2016 |
Langman CB, Barshop BA, Deschênes G, Emma F, Goodyer P, Lipkin G, Midgley JP, Ottolenghi C, Servais A, Soliman NA, Thoene JG, Levtchenko EN. Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney International. 89: 1192-203. PMID 27181776 DOI: 10.1016/J.Kint.2016.01.033 |
0.165 |
|
| 1977 |
Thoene J, Batshaw M, Spector E, Kulovich S, Brusilow S, Walser M, Nyhan W. Neonatal citrullinemia: Treatment with keto-analogues of essential amino acids The Journal of Pediatrics. 90: 218-224. PMID 830913 DOI: 10.1016/S0022-3476(77)80633-1 |
0.156 |
|
| 1984 |
Thoene JG, Lemons R. CYCLOHEXIMIDE INHIBITS LYSOSOMAL PROTEOLYSIS OF ENDOGENOUS BUT NOT EXOGENOUS PROTEINS Pediatric Research. 18: 146A-146A. DOI: 10.1203/00006450-198404001-00318 |
0.155 |
|
| 1987 |
Dasouki M, Buchanan D, Mercer N, Gibson KM, Thoene J. 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction. Journal of Inherited Metabolic Disease. 10: 142-6. PMID 2443756 DOI: 10.1007/BF01800039 |
0.153 |
|
| 1989 |
de Cespedes C, Thoene JG, Lowler K, Christensen HN. Evidence for inhibition of exodus of small neutral amino acids from non-brain tissues in hyperphenylalaninaemic rats Journal of Inherited Metabolic Disease. 12: 166-180. PMID 2502675 DOI: 10.1007/Bf01800722 |
0.151 |
|
| 1985 |
Wittwer CT, Gahl WA, Butler JD, Zatz M, Thoene JG. Metabolism of pantethine in cystinosis. The Journal of Clinical Investigation. 76: 1665-72. PMID 4056044 DOI: 10.1172/Jci112152 |
0.15 |
|
| 2017 |
Wolff M, Johannesen KM, Hedrich UB, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, ... ... Thoene JG, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain : a Journal of Neurology. PMID 28379373 DOI: 10.1093/Brain/Awx054 |
0.146 |
|
| 1992 |
de Céspedes C, Thoene JG, Lowler K, Christensen HN. Leucine and tissue distribution of bulky and small neutral amino acids in rats: Dissociation between transport and insulin-mediated effects Journal of Inherited Metabolic Disease. 15: 145-154. PMID 1583869 DOI: 10.1007/Bf01800357 |
0.141 |
|
| 1984 |
Test ST, Lampert MB, Ossanna PJ, Thoene JG, Weiss SJ. Generation of nitrogen-chlorine oxidants by human phagocytes. The Journal of Clinical Investigation. 74: 1341-9. PMID 6090501 DOI: 10.1172/JCI111544 |
0.138 |
|
| 1990 |
Gahl WA, Schneider JA, Schulman JD, Thoene JG, Reed GF. Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine. Pediatric Nephrology (Berlin, Germany). 4: 129-35. PMID 2397178 DOI: 10.1007/BF00858823 |
0.13 |
|
| 1985 |
Thoene JG, Forster S, Lloyd JB. The role of pinocytosis in the cellular uptake of an amino acid. Biochemical and Biophysical Research Communications. 127: 733-8. PMID 3985954 DOI: 10.1016/S0006-291X(85)80004-8 |
0.121 |
|
| 1995 |
Schneider JA, Clark KF, Greene AA, Reisch JS, Markello TC, Gahl WA, Thoene JG, Noonan PK, Berry KA. Recent advances in the treatment of cystinosis. Journal of Inherited Metabolic Disease. 18: 387-97. PMID 7494398 DOI: 10.1007/BF00710051 |
0.114 |
|
| 2017 |
Thoene JG. Conclusions to the Supplement, "Extra-Renal Complications of Cystinosis". The Journal of Pediatrics. 183: S24-S25. PMID 28343474 DOI: 10.1016/j.jpeds.2016.12.057 |
0.111 |
|
| 1986 |
Buchanan DN, Thoene JG. Photodiode array ultraviolet spectrophotometric profiling of carboxylic acids in physiological fluids. Journal of Chromatography. 344: 23-32. PMID 4086542 DOI: 10.1016/S0378-4347(00)82003-4 |
0.111 |
|
| 2007 |
Thoene JG. A review of the role of enhanced apoptosis in the pathophysiology of cystinosis. Molecular Genetics and Metabolism. 92: 292-8. PMID 17728168 DOI: 10.1016/j.ymgme.2007.07.008 |
0.111 |
|
| 1982 |
Sanghvi RS, Lemons RM, Baker H, Thoene JG. A simple method for determination of plasma and urinary biotin. Clinica Chimica Acta; International Journal of Clinical Chemistry. 124: 85-90. PMID 7127840 DOI: 10.1016/0009-8981(82)90322-9 |
0.11 |
|
| 1987 |
Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corden BJ, Schneider JA. Cysteamine therapy for children with nephropathic cystinosis. The New England Journal of Medicine. 316: 971-7. PMID 3550461 DOI: 10.1056/NEJM198704163161602 |
0.108 |
|
| 2017 |
Thoene JG. Introduction to "Extra-Renal Complications of Cystinosis". The Journal of Pediatrics. 183: S1. PMID 28343469 DOI: 10.1016/j.jpeds.2016.12.051 |
0.106 |
|
| 1992 |
Collins JC, Buchanan DN, Thoene JG, Erickson RP, Brooks SS, Gluecksohn-Waelsch S. Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities. Biochemical and Biophysical Research Communications. 187: 340-6. PMID 1520318 DOI: 10.1016/S0006-291X(05)81498-6 |
0.105 |
|
| 1989 |
Buchanan DN, Thoene JG. Early identification of isovaleric aciduria using photodiode array detection for liquid chromatographic profiling of urinary carboxylic acids. Biomedical Chromatography : Bmc. 1: 38-40. PMID 3506817 DOI: 10.1002/bmc.1130010109 |
0.101 |
|
| 1985 |
Wittwer CT, Thoene JG. 876 METABOLISM OF PANTETHINE IN NEPHROPATHIC CYSTINOSIS Pediatric Research. 19: 256A-256A. DOI: 10.1203/00006450-198504000-00906 |
0.1 |
|
| 1986 |
Gahl WA, Schneider JA, Thoene JG, Chesney R. Course of nephropathic cystinosis after age 10 years. The Journal of Pediatrics. 109: 605-8. PMID 3531450 DOI: 10.1016/S0022-3476(86)80221-9 |
0.097 |
|
| 1986 |
Langman C, Moore E, Thoene J, Schneider J. Renal Failure in a Sibship with Late-Onset Cystinosis Journal of Urology. 135: 887-887. DOI: 10.1016/S0022-5347(17)45910-6 |
0.095 |
|
| 1985 |
Langman CB, Moore ES, Thoene JG, Schneider JA. Renal failure in a sibship with late-onset cystinosis. The Journal of Pediatrics. 107: 755-6. PMID 4056976 DOI: 10.1016/S0022-3476(85)80410-8 |
0.095 |
|
| 1984 |
Khalidi N, Wesley JR, Thoene JG, Whitehouse WM, Baker WL. Biotin deficiency in a patient with short bowel syndrome during home parenteral nutrition. Jpen. Journal of Parenteral and Enteral Nutrition. 8: 311-4. PMID 6429370 DOI: 10.1177/0148607184008003311 |
0.095 |
|
| 2002 |
Gahl WA, Thoene JG, Schneider JA. Cystinosis. The New England Journal of Medicine. 347: 111-21. PMID 12110740 DOI: 10.1056/NEJMra020552 |
0.093 |
|
| 1996 |
Raper SE, Grossman M, Rader DJ, Thoene JG, Clark BJ, Kolansky DM, Muller DW, Wilson JM. Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia. Annals of Surgery. 223: 116-26. PMID 8597504 DOI: 10.1097/00000658-199602000-00002 |
0.091 |
|
| 1985 |
Donn SM, Thoene JG. Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy. Journal of Inherited Metabolic Disease. 8: 18-20. PMID 3921755 DOI: 10.1007/BF01805478 |
0.089 |
|
| 1978 |
Thoene J, Sweetman L, Shafai T, Kennaway N, Fellman J, Nyhan W. Tyrosinemia associated with perinatal infection with cytomegalovirus. The Journal of Pediatrics. 92: 108-12. PMID 201739 DOI: 10.1016/S0022-3476(78)80088-2 |
0.088 |
|
| 2022 |
Thoene J, Gavin RF, Towne A, Wattay L, Ferrari MG, Navarrete J, Pal R. In vitro activity of cysteamine against SARS-CoV-2 variants. Molecular Genetics and Metabolism. 137: 192-200. PMID 36115282 DOI: 10.1016/j.ymgme.2022.08.009 |
0.088 |
|
| 1984 |
Wittwer CT, Thoene JG. PHARMACOLOGY OF PANTETHINE IN NEPHROPATHIC CYSTINOSIS Pediatric Research. 18: 163A-163A. DOI: 10.1203/00006450-198404001-00419 |
0.084 |
|
| 1967 |
Thoene JG, Talbert JL, Subramanian S, Odell GB. Use of the hand refractometer in determining total serum proteins of infants and children The Journal of Pediatrics. 71: 413-417. PMID 6034793 DOI: 10.1016/S0022-3476(67)80304-4 |
0.082 |
|
| 1991 |
Buchanan DN, Muenzer J, Thoene JG. Positive-ion thermospray liquid chromatography-mass spectrometry: detection of organic acidurias. Journal of Chromatography. 534: 1-11. PMID 1709942 DOI: 10.1016/S0378-4347(00)82143-X |
0.081 |
|
| 1991 |
Thoene JG, Burken MI, Hopkins RJ, Russell RG, Morris JG. Seropositivity to Helicobacter pylori: lack of association with length of hospitalization. Journal of Clinical Microbiology. 29: 1392-6. PMID 1885734 DOI: 10.1128/jcm.29.7.1392-1396.1991 |
0.081 |
|
| 1984 |
Buchanan DN, Bonasso F, Thoene JG. Volatile carboxylic acid profiling in physiological fluids. Journal of Chromatography. 278: 133-8. PMID 6662870 DOI: 10.1016/S0378-4347(00)84763-5 |
0.075 |
|
| 1982 |
Corden BJ, Schulman JD, Schneider JA, Thoene JG. Adverse reactions to oral cysteamine use in nephropathic cystinosis. Developmental Pharmacology and Therapeutics. 3: 25-30. PMID 7307866 DOI: 10.1159/000457418 |
0.071 |
|
| 1988 |
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T. NIH conference. Cystinosis: progress in a prototypic disease. Annals of Internal Medicine. 109: 557-69. PMID 3048161 DOI: 10.7326/0003-4819-109-7-557 |
0.071 |
|
| 2005 |
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, ... Thoene JG, et al. First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future. Pediatric Nephrology (Berlin, Germany). 20: 452-4. PMID 15747161 DOI: 10.1007/S00467-004-1777-5 |
0.071 |
|
| 2017 |
Thoene JG, Mullet J. Microvesicle-mediated delivery of cystinosin to rabbit cornea Molecular Genetics and Metabolism. 120: S131. DOI: 10.1016/j.ymgme.2016.11.344 |
0.069 |
|
| 1986 |
Wittwer CT, Gahl WA, Butler JD, Zatz M, Thoene JG. Metabolism of Pantethine in Cystinosis Nutrition in Clinical Practice. 1: 59-60. DOI: 10.1177/088453368600100121 |
0.068 |
|
| 1986 |
Buchanan DN, Thoene JG. Photodiode array detection for liquid chromatographic profiling of carboxylic acids in physiological fluids: 3-hydroxy-3-methylglutaric aciduria. Clinical Chemistry. 32: 169-171. DOI: 10.1093/clinchem/32.1.169 |
0.067 |
|
| 1979 |
Schneider JA, Schlesselman JJ, Mendoza SA, Orloff S, Thoene JG, Kroll WA, Godfrey AD, Schulman JD. Ineffectiveness of ascorbic acid therapy in nephropathic cystinosis. The New England Journal of Medicine. 300: 756-9. PMID 370586 DOI: 10.1056/NEJM197904053001403 |
0.065 |
|
| 1982 |
Buchanan DN, Thoene JG. Dual-column high-performance liquid chromatographic urinary organic acid profiling. Analytical Biochemistry. 124: 108-16. PMID 7125218 DOI: 10.1016/0003-2697(82)90227-5 |
0.064 |
|
| 1983 |
Thoene J, Wolf B. Biotinidase deficiency in juvenile multiple carboxylase deficiency. Lancet (London, England). 2: 398. PMID 6135890 DOI: 10.1016/S0140-6736(83)90364-1 |
0.064 |
|
| 1980 |
Thoene JG, Lemons R. Cystine depletion of cystinotic tissues by phosphocysteamine (WR638). The Journal of Pediatrics. 96: 1043-4. PMID 7373465 DOI: 10.1016/S0022-3476(80)80637-8 |
0.062 |
|
| 1981 |
Buchanan DN, Thoene JG. Analysis of α-Ketocarboxylic Acids by Ion Exchange Hplc With UV and Amperometric Detection Journal of Liquid Chromatography. 4: 1219-1224. DOI: 10.1080/01483918108068807 |
0.062 |
|
| 1992 |
Pisoni RL, Thoene JG. The transport systems of mammalian lysosomes. Biochimica Et Biophysica Acta. 1071: 351-73. PMID 1751541 DOI: 10.1016/0304-4157(91)90002-E |
0.062 |
|
| 1981 |
Donn SM, Swartz RP, Thoene JG. 1290 TRANSIENT HYPERAMMONEMIA OF PREMATURITY (THP): RESPONSE TO HEMODIALYSIS (HD) Pediatric Research. 15: 658-658. DOI: 10.1203/00006450-198104001-01319 |
0.06 |
|
| 1981 |
Buchanan DN, Thoene JG. HPLC Urinary Organic Acid Profiling: Role of the Ultraviolet and Amperometric Detectors Journal of Liquid Chromatography. 4: 1587-1600. DOI: 10.1080/01483918108064831 |
0.059 |
|
| 1979 |
Donn SM, Swartz RD, Thoene JG. Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant The Journal of Pediatrics. 95: 67-70. PMID 480015 DOI: 10.1016/S0022-3476(79)80085-2 |
0.055 |
|
| 1999 |
Thoene JG. Treatment of urea cycle disorders. The Journal of Pediatrics. 134: 255-6. PMID 10064655 DOI: 10.1016/S0022-3476(99)70443-9 |
0.049 |
|
| 1983 |
Thoene JG, Lemons R, Baker H. Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. The New England Journal of Medicine. 308: 639-42. PMID 6828095 DOI: 10.1056/NEJM198303173081107 |
0.049 |
|
| 1985 |
Buchanan DN, Thoene JG. Volatile carboxylic acid profiling in physiological fluids: direct injection into a gas chromatograph/mass spectrometer. Clinica Chimica Acta; International Journal of Clinical Chemistry. 145: 183-91. PMID 3971589 DOI: 10.1016/0009-8981(85)90285-2 |
0.046 |
|
| 2017 |
Thoene JG. Myopathy and Less Frequent Complications of Cystinosis. The Journal of Pediatrics. 183: S22-S23. PMID 28343473 DOI: 10.1016/j.jpeds.2016.12.056 |
0.044 |
|
| 1994 |
Thoene JG. Current status of orphan disease drug development. Current Opinion in Pediatrics. 6: 209-12. PMID 8032402 DOI: 10.1097/00008480-199404000-00015 |
0.044 |
|
| 1982 |
Donn SM, Swartz RD, Thoene JG. Transient hyperammonemia in the preterm infant Neurology. 32: 1071-1071. DOI: 10.1212/WNL.32.9.1071 |
0.036 |
|
| 2022 |
Barshop BA, Jonas AJ, Gahl WA, Thoene JG. In memoriam: Jerry Allan Schneider, 1937-2021. Molecular Genetics and Metabolism. PMID 35659502 DOI: 10.1016/j.ymgme.2022.05.003 |
0.036 |
|
| 2020 |
Yang D, Song J, Xu J, Zhang J, Chen YE, Thoene JG. A rabbit model of nephropathic cystinosis Molecular Genetics and Metabolism. 129: S164. DOI: 10.1016/j.ymgme.2019.11.438 |
0.033 |
|
| 1984 |
Donn SM, Thoene JG. EFFECTIVENESS OF EARLY ARGININE (ARG) THERAPY IN ARGININOSUCCINIC ACIDURIA (ASA) Pediatric Research. 18: 319A-319A. DOI: 10.1203/00006450-198404001-01357 |
0.031 |
|
| 1983 |
Gahl WA, Schulman JD, Thoene JG, Schneider J. Hepatotoxicity of cysteamine? The Journal of Pediatrics. 103: 1008-9. PMID 6644413 DOI: 10.1016/S0022-3476(83)80753-7 |
0.03 |
|
| 1977 |
Thoene JG, Sweetman L, Nyhan WL, Shafai T. CONGENITAL CMV INFECTION PRESENTING AS TYROSINEMIA Pediatric Research. 11: 508-508. DOI: 10.1203/00006450-197704000-00830 |
0.029 |
|
| 1978 |
Thoene JG, Sweetman L, Schmickel RD. 566 PROPIONICACIDEMIA PRESENTING AS HYPERAMMONEMIA Pediatric Research. 12: 458-458. DOI: 10.1203/00006450-197804001-00571 |
0.026 |
|
| 1985 |
Donn SM, Thoene JG, Wilson GN. 817 PREVENTION OF NEONATAL HYPERAMMONEMIA IN CITRULLINEMIA Pediatric Research. 19: 247A-247A. DOI: 10.1203/00006450-198504000-00847 |
0.025 |
|
| 1996 |
Parekh RS, Bunchman TE, Thoene JG, Sedman AS. Catch-up Growth in Cystinotic Children with Specified Nutrition. 2184 Pediatric Research. 39: 367-367. DOI: 10.1203/00006450-199604001-02208 |
0.015 |
|
| 2004 |
Thoene JG. Orphan drugs and orphan tests in the USA. Community Genetics. 7: 169-72. PMID 15692190 DOI: 10.1159/000082255 |
0.01 |
|
| 1991 |
Thoene JG. Curing the Orphan Drug Act. Science (New York, N.Y.). 251: 1158-9. PMID 2006403 DOI: 10.1126/science.2006403 |
0.01 |
|
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