| Year |
Citation |
Score |
| 2020 |
Tang H, Matteson J, Rinaldo P, Tortorelli S, Currier R, Sciortino S. The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California. International Journal of Neonatal Screening. 6: 62. PMID 33123639 DOI: 10.3390/Ijns6030062 |
0.37 |
|
| 2020 |
Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, ... ... Rinaldo P, et al. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses. International Journal of Neonatal Screening. 6: 51. PMID 33123633 DOI: 10.3390/Ijns6030051 |
0.358 |
|
| 2020 |
Gavrilov DK, Piazza AL, Pino G, Turgeon C, Matern D, Oglesbee D, Raymond K, Tortorelli S, Rinaldo P. The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism. International Journal of Neonatal Screening. 6: 33. PMID 33073028 DOI: 10.3390/Ijns6020033 |
0.387 |
|
| 2020 |
Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, ... ... Rinaldo P, et al. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. International Journal of Neonatal Screening. 6: 10. PMID 33073008 DOI: 10.3390/Ijns6010010 |
0.368 |
|
| 2020 |
Sanders KA, Gavrilov DK, Oglesbee D, Raymond KM, Tortorelli S, Hopwood JJ, Lorey F, Majumdar R, Kroll CA, McDonald AM, Lacey JM, Turgeon CT, Tucker JN, Tang H, Currier R, ... ... Rinaldo P, et al. A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. International Journal of Neonatal Screening. 6. PMID 32802993 DOI: 10.3390/Ijns6020044 |
0.373 |
|
| 2020 |
Schultz MJ, Netzel BC, Singh RH, Pino GB, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Tortorelli S, Smith WE, Matern D. Laboratory monitoring of patients with hereditary tyrosinemia type I. Molecular Genetics and Metabolism. PMID 32546364 DOI: 10.1016/J.Ymgme.2020.06.001 |
0.344 |
|
| 2020 |
Kirby T, Walters DC, Brown M, Jansen E, Salomons GS, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, Roullet JB, Gibson KM. Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes. Metabolic Brain Disease. PMID 32172518 DOI: 10.1007/S11011-020-00550-1 |
0.356 |
|
| 2020 |
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, ... ... Rinaldo P, et al. The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32089546 DOI: 10.1038/S41436-020-0764-Y |
0.335 |
|
| 2019 |
Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, Peck D, Studinski A, White A, Gavrilov D, Rinaldo P, Matern D, Oglesbee D, Giugliani R, Burin M, et al. Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. Molecular Genetics and Metabolism. PMID 31753749 DOI: 10.1016/J.Ymgme.2019.10.009 |
0.332 |
|
| 2019 |
Brown M, Turgeon C, Rinaldo P, Roullet JB, Gibson KM. Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1 mice, a model of succinic semialdehyde dehydrogenase deficiency. Molecular Genetics and Metabolism. PMID 31699650 DOI: 10.1016/J.Ymgme.2019.10.003 |
0.315 |
|
| 2019 |
Nickander KK, Lacey JM, Gavrilov DK, Matern D, Oglesbee D, Rinaldo P, Tortorelli S, Raymond K. Multiplex assay for the tandem detection of ceramide trihexosides and sulfatides: Efficient first tier screening for Fabry, MLD, MSD, and Saposin B in urine Molecular Genetics and Metabolism. 126. DOI: 10.1016/J.Ymgme.2018.12.273 |
0.3 |
|
| 2019 |
Lacey JM, Gavrilov DK, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Mucopolysaccharide quantitation in urine by LC-MS/MS Molecular Genetics and Metabolism. 126. DOI: 10.1016/J.Ymgme.2018.12.221 |
0.316 |
|
| 2018 |
Merritt JL, Brody LL, Pino G, Rinaldo P. Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening. Molecular Genetics and Metabolism. PMID 29703588 DOI: 10.1016/J.Ymgme.2018.04.006 |
0.363 |
|
| 2018 |
Turgeon C, White A, Peck D, Pino GB, Studinksi A, Orsini JJ, Gelb M, Christine Dorley M, Pellegrino J, Sakonju A, Prasad V, Kurtzberg J, Oglesbee D, Gavrilov D, Tortorelli S, ... Rinaldo P, et al. Psychosine: A useful biomarker for newborn screening, follow up and monitoring of Krabbe disease Molecular Genetics and Metabolism. 123: S142. DOI: 10.1016/J.Ymgme.2017.12.392 |
0.314 |
|
| 2018 |
Peck D, Pino GB, Studinksi A, White AL, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S, Matern D. Laboratory follow up after abnormal newborn screening for lysosomal disorders Molecular Genetics and Metabolism. 123. DOI: 10.1016/J.Ymgme.2017.12.309 |
0.343 |
|
| 2018 |
Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Raymond K, Hart J, Mott L, Rinaldo P. Precision newborn screening for three lysosomal disorders in Kentucky Molecular Genetics and Metabolism. 123. DOI: 10.1016/J.Ymgme.2017.12.243 |
0.334 |
|
| 2018 |
Matern D, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Hart J, Mott L, Kurtzberg J, Prasad V, Rinaldo P. Efficient and effective newborn screening (NBS) for early infantile Krabbe diseases (KD) Molecular Genetics and Metabolism. 123. DOI: 10.1016/J.Ymgme.2017.12.242 |
0.306 |
|
| 2017 |
Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D. Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. Molecular Genetics & Genomic Medicine. 5: 795-799. PMID 29178637 DOI: 10.1002/Mgg3.333 |
0.348 |
|
| 2017 |
Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, ... Rinaldo P, et al. Precision newborn screening for lysosomal disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29120458 DOI: 10.1038/Gim.2017.194 |
0.352 |
|
| 2017 |
Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P. Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29095812 DOI: 10.1038/Gim.2017.190 |
0.336 |
|
| 2017 |
Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D. A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening. The Journal of Molecular Diagnostics : Jmd. 19: 755-765. PMID 28826609 DOI: 10.1016/J.Jmoldx.2017.05.011 |
0.33 |
|
| 2017 |
Maase R, Skrinska V, Younes N, Hassan L, Mitri R, Matern D, Rinaldo P, Turgeon C. A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry International Journal of Neonatal Screening. 3: 32. DOI: 10.3390/Ijns3040032 |
0.36 |
|
| 2016 |
Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D. Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. Clinical Chemistry. PMID 27440509 DOI: 10.1373/Clinchem.2016.256255 |
0.36 |
|
| 2015 |
Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Seminars in Perinatology. 39: 206-16. PMID 25891428 DOI: 10.1053/J.Semperi.2015.03.005 |
0.353 |
|
| 2015 |
Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, ... Rinaldo P, et al. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25856670 DOI: 10.1038/Gim.2015.45 |
0.334 |
|
| 2015 |
Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. Journal of Inherited Metabolic Disease. PMID 25762406 DOI: 10.1007/S10545-015-9830-Z |
0.383 |
|
| 2015 |
Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D. Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease. Journal of Inherited Metabolic Disease. PMID 25762404 DOI: 10.1007/S10545-015-9822-Z |
0.345 |
|
| 2015 |
Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S. Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. Molecular Genetics and Metabolism. 114: 46-50. PMID 25481105 DOI: 10.1016/J.Ymgme.2014.11.013 |
0.328 |
|
| 2015 |
Tortorelli S, Turgeon C, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D. Combined screening for lysosomal and peroxisomal disorders by Flow Injection Liquid Chromatography Mass Spectrometry (FIA-MS/MS) in Dried Blood Spots (DBS) Journal of the Neurological Sciences. 357. DOI: 10.1016/J.Jns.2015.08.728 |
0.316 |
|
| 2014 |
Hickey RD, Mao SA, Glorioso J, Lillegard JB, Fisher JE, Amiot B, Rinaldo P, Harding CO, Marler R, Finegold MJ, Grompe M, Nyberg SL. Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease. Stem Cell Research. 13: 144-53. PMID 24879068 DOI: 10.1016/J.Scr.2014.05.003 |
0.302 |
|
| 2014 |
Hall PL, Marquardt G, McHugh DM, Currier RJ, Tang H, Stoway SD, Rinaldo P. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 889-95. PMID 24875301 DOI: 10.1038/Gim.2014.62 |
0.312 |
|
| 2013 |
Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clinical Chemistry. 59: 1461-9. PMID 23838345 DOI: 10.1373/Clinchem.2013.207472 |
0.318 |
|
| 2013 |
Raymond K, Rinaldo P. From art to science: oligosaccharide analysis by maldi-tof mass spectrometry finally replaces 1-dimensional thin-layer chromatography. Clinical Chemistry. 59: 1297-8. PMID 23794733 DOI: 10.1373/Clinchem.2013.208793 |
0.318 |
|
| 2012 |
Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, et al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 648-55. PMID 22766634 DOI: 10.1038/Gim.2012.2 |
0.35 |
|
| 2012 |
Bennett MJ, Rinaldo P, Wilcken B, Pass KA, Watson MS, Wanders RJ. Newborn screening for metabolic disorders: how are we doing, and where are we going? Clinical Chemistry. 58: 324-31. PMID 21865484 DOI: 10.1373/Clinchem.2011.171215 |
0.405 |
|
| 2012 |
Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P, Raymond K. Development of Efficient and Effective Newborn Screening (NBS) Strategies for Lysosomal Storage Disorders (LSD) Molecular Genetics and Metabolism. 105. DOI: 10.1016/J.Ymgme.2011.11.111 |
0.319 |
|
| 2011 |
Sarafoglou K, Matern D, Redlinger-Grosse K, Bentler K, Gaviglio A, Harding CO, Rinaldo P. Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. Pediatrics. 128: e246-50. PMID 21669895 DOI: 10.1542/Peds.2010-3918 |
0.368 |
|
| 2011 |
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, ... ... Rinaldo P, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 230-54. PMID 21325949 DOI: 10.1097/Gim.0B013E31820D5E67 |
0.362 |
|
| 2010 |
Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clinical Chemistry. 56: 1686-95. PMID 20807894 DOI: 10.1373/Clinchem.2010.148957 |
0.394 |
|
| 2010 |
Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Molecular Genetics and Metabolism. 100: 241-50. PMID 20434380 DOI: 10.1016/J.Ymgme.2010.04.001 |
0.345 |
|
| 2010 |
Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. The Journal of Pediatrics. 157: 271-5. PMID 20394947 DOI: 10.1016/J.Jpeds.2010.02.027 |
0.355 |
|
| 2010 |
Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Molecular Genetics and Metabolism. 100: 136-42. PMID 20307994 DOI: 10.1016/J.Ymgme.2009.11.010 |
0.39 |
|
| 2010 |
Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 153-9. PMID 20154628 DOI: 10.1097/Gim.0B013E3181D2Af04 |
0.309 |
|
| 2010 |
Loken PR, Magera MJ, Introne W, Tortorelli S, Gavrilov D, Oglesbee D, Rinaldo P, Matern D, Raymond K. Homogentisic acid interference in routine urine creatinine determination. Molecular Genetics and Metabolism. 100: 103-4. PMID 20138792 DOI: 10.1016/J.Ymgme.2010.01.006 |
0.31 |
|
| 2009 |
Dietzen DJ, Rinaldo P, Whitley RJ, Rhead WJ, Hannon WH, Garg UC, Lo SF, Bennett MJ. National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clinical Chemistry. 55: 1615-26. PMID 19574465 DOI: 10.1373/Clinchem.2009.131300 |
0.373 |
|
| 2008 |
Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. Journal of Inherited Metabolic Disease. 31: S453-6. PMID 19089597 DOI: 10.1007/S10545-008-1039-Y |
0.392 |
|
| 2008 |
Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, et al. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Human Genetics. 124: 43-56. PMID 18523805 DOI: 10.1007/S00439-008-0521-9 |
0.363 |
|
| 2008 |
Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clinical Chemistry. 54: 657-64. PMID 18281422 DOI: 10.1373/Clinchem.2007.101949 |
0.397 |
|
| 2008 |
Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clinical Chemistry. 54: 542-9. PMID 18178665 DOI: 10.1373/Clinchem.2007.098434 |
0.39 |
|
| 2007 |
Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004-2007) Journal of Inherited Metabolic Disease. 30: 585-592. PMID 17643193 DOI: 10.1007/S10545-007-0691-Y |
0.356 |
|
| 2007 |
Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, et al. Expanded newborn screening identifies maternal primary carnitine deficiency. Molecular Genetics and Metabolism. 90: 441-5. PMID 17126586 DOI: 10.1016/J.Ymgme.2006.10.003 |
0.399 |
|
| 2007 |
Rinaldo P, Hahn S, Matern D. Clinical biochemical genetics in the twenty-first century Acta Paediatrica. 93: 22-26. PMID 15176715 DOI: 10.1111/J.1651-2227.2004.Tb03051.X |
0.396 |
|
| 2007 |
Matsubara Y, Fujii K, Rinaldo P, Narisawa K. A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders. Acta Paediatrica. 88: 65-68. PMID 10626583 DOI: 10.1111/J.1651-2227.1999.Tb01162.X |
0.34 |
|
| 2006 |
Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Mental Retardation and Developmental Disabilities Research Reviews. 12: 255-61. PMID 17183573 DOI: 10.1002/Mrdd.20130 |
0.311 |
|
| 2006 |
Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Molecular Genetics and Metabolism. 89: 134-8. PMID 16644258 DOI: 10.1016/J.Ymgme.2006.03.008 |
0.328 |
|
| 2006 |
Struys EA, Verhoeven NM, Jansen EE, Ten Brink HJ, Gupta M, Burlingame TG, Quang LS, Maher T, Rinaldo P, Snead OC, Goodwin AK, Weerts EM, Brown PR, Murphy TC, Picklo MJ, et al. Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase. Metabolism: Clinical and Experimental. 55: 353-8. PMID 16483879 DOI: 10.1016/J.Metabol.2005.09.009 |
0.303 |
|
| 2006 |
Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Molecular Genetics and Metabolism. 88: 16-21. PMID 16448836 DOI: 10.1016/J.Ymgme.2005.12.005 |
0.366 |
|
| 2006 |
Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR, Cordero J, Edwards ES, Howse JL, Mullaley T, Van Dyck P, Becker W, Boyle C, Cunningham GC, DeBaun MR, Downs SM, et al. Newborn screening: Toward a uniform screening panel and system - Executive summary Pediatrics. 117. DOI: 10.1542/Peds.2005-2633I |
0.323 |
|
| 2005 |
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, Gioia LD, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, et al. ETHE1 mutations are specific to ethylmalonic encephalopathy Journal of Medical Genetics. 43: 340-346. PMID 16183799 DOI: 10.1136/Jmg.2005.036210 |
0.336 |
|
| 2005 |
Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Molecular Genetics and Metabolism. 86: 160-71. PMID 16150626 DOI: 10.1016/J.Ymgme.2005.07.018 |
0.323 |
|
| 2005 |
Tolwani RJ, Hamm DA, Tian L, Sharer JD, Vockley J, Rinaldo P, Matern D, Schoeb TR, Wood PA. Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. Plos Genetics. 1: e23. PMID 16121256 DOI: 10.1371/Journal.Pgen.0010023 |
0.376 |
|
| 2005 |
Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 7: 339-43. PMID 15915086 DOI: 10.1097/01.Gim.0000164548.54482.9D |
0.342 |
|
| 2005 |
Ibdah JA, Perlegas P, Zhao Y, Angdisen J, Borgerink H, Shadoan MK, Wagner JD, Matern D, Rinaldo P, Cline JM. Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance. Gastroenterology. 128: 1381-90. PMID 15887119 DOI: 10.1053/J.Gastro.2005.02.001 |
0.304 |
|
| 2005 |
Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Molecular Genetics and Metabolism. 85: 7-11. PMID 15862275 DOI: 10.1016/J.Ymgme.2004.09.006 |
0.346 |
|
| 2005 |
Shneider BL, Rinaldo P, Emre S, Bucuvalas J, Squires R, Narkewicz M, Gondolesi G, Magid M, Morotti R, Hynan LS. Abnormal concentrations of esterified carnitine in bile: a feature of pediatric acute liver failure with poor prognosis. Hepatology (Baltimore, Md.). 41: 717-21. PMID 15791615 DOI: 10.1002/Hep.20631 |
0.311 |
|
| 2005 |
Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Molecular Genetics and Metabolism. 84: 137-43. PMID 15670719 DOI: 10.1016/J.Ymgme.2004.09.016 |
0.346 |
|
| 2004 |
Schuler AM, Gower BA, Matern D, Rinaldo P, Wood PA. Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation. Molecular Genetics and Metabolism. 83: 322-9. PMID 15589119 DOI: 10.1016/J.Ymgme.2004.08.010 |
0.349 |
|
| 2004 |
Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. American Journal of Human Genetics. 75: 1136-42. PMID 15486829 DOI: 10.1086/426318 |
0.37 |
|
| 2004 |
Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. The Journal of Clinical Endocrinology and Metabolism. 89: 3687-93. PMID 15292289 DOI: 10.1210/Jc.2003-032235 |
0.363 |
|
| 2004 |
Rinaldo P, Tortorelli S, Matern D. Recent developments and new applications of tandem mass spectrometry in newborn screening. Current Opinion in Pediatrics. 16: 427-33. PMID 15273505 DOI: 10.1097/01.Mop.0000133635.79661.84 |
0.324 |
|
| 2004 |
McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF. Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Molecular Genetics and Metabolism. 82: 112-20. PMID 15171998 DOI: 10.1016/J.Ymgme.2004.04.004 |
0.411 |
|
| 2004 |
Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. American Journal of Medical Genetics. Part A. 126: 150-5. PMID 15057979 DOI: 10.1002/Ajmg.A.20573 |
0.377 |
|
| 2004 |
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, et al. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. American Journal of Human Genetics. 74: 239-52. PMID 14732903 DOI: 10.1086/381653 |
0.317 |
|
| 2004 |
Grier RE, Gahl WA, Cowan T, Bernardini I, McDowell GA, Rinaldo P. Revised Sections F7.5 (Quantitative Amino Acid Analysis) and F7.6 (Qualitative Amino Acid Analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003 Genetics in Medicine. 6: 66-68. PMID 14726814 DOI: 10.1097/01.Gim.0000106163.35058.7D |
0.331 |
|
| 2004 |
Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clinical Chemistry. 50: 621-5. PMID 14656905 DOI: 10.1373/Clinchem.2003.027193 |
0.346 |
|
| 2003 |
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 112: 74-8. PMID 12837870 DOI: 10.1542/Peds.112.1.74 |
0.367 |
|
| 2003 |
Gillingham MB, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, Harding CO. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism. 79: 114-23. PMID 12809642 DOI: 10.1016/S1096-7192(03)00073-8 |
0.307 |
|
| 2003 |
Magera MJ, Thompson AL, Matern D, Rinaldo P. Liquid chromatography-tandem mass spectrometry method for the determination of vanillylmandelic acid in urine. Clinical Chemistry. 49: 825-6. PMID 12709381 DOI: 10.1373/49.5.825 |
0.317 |
|
| 2003 |
Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Molecular Genetics and Metabolism. 78: 239-46. PMID 12706374 DOI: 10.1016/S1096-7192(03)00034-9 |
0.324 |
|
| 2003 |
Shneider BL, Rinaldo P, Squires RH, Bucuvalas J, Narkewicz MR, Emre S. 795 Prospective analysis of potential fatty acid oxidation (FAO) defects in children with acute liver failure using electrospray tandem mass spectrometry (ETMS) of bile Hepatology. 38: 544-544. DOI: 10.1016/S0270-9139(03)80837-6 |
0.329 |
|
| 2002 |
Kroll CA, Magera MJ, Helgeson JK, Matern D, Rinaldo P. Liquid chromatographic-tandem mass spectrometric method for the determination of 5-hydroxyindole-3-acetic acid in urine. Clinical Chemistry. 48: 2049-51. PMID 12406994 DOI: 10.1093/Clinchem/48.11.2049 |
0.344 |
|
| 2002 |
Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annual Review of Physiology. 64: 477-502. PMID 11826276 DOI: 10.1146/Annurev.Physiol.64.082201.154705 |
0.372 |
|
| 2001 |
Rinaldo P. Fatty acid transport and mitochondrial oxidation disorders. Seminars in Liver Disease. 21: 489-500. PMID 11745037 DOI: 10.1055/S-2001-19037 |
0.393 |
|
| 2001 |
Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P, Pinkert CA, Rhead WJ, Lindsey JR, Wood PA. Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Human Molecular Genetics. 10: 2069-77. PMID 11590124 DOI: 10.1093/Hmg/10.19.2069 |
0.331 |
|
| 2001 |
Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card. Pediatrics. 108: E19. PMID 11433098 DOI: 10.1542/Peds.108.1.E19 |
0.46 |
|
| 2001 |
Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, Matern D, Bennett MJ, Rinaldo P, Strauss AW. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. The Journal of Clinical Investigation. 107: 1403-9. PMID 11390422 DOI: 10.1172/Jci12590 |
0.336 |
|
| 2001 |
Lagerstedt SA, Hinrichs DR, Batt SM, Magera MJ, Rinaldo P, McConnell JP. Quantitative Determination of Plasma C8–C26 Total Fatty Acids for the Biochemical Diagnosis of Nutritional and Metabolic Disorders Molecular Genetics and Metabolism. 73: 38-45. PMID 11350181 DOI: 10.1006/Mgme.2001.3170 |
0.394 |
|
| 2001 |
Magera MJ, Stoor AL, Helgeson JK, Matern D, Rinaldo P. Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry. Clinica Chimica Acta. 306: 35-41. PMID 11282092 DOI: 10.1016/S0009-8981(01)00397-7 |
0.314 |
|
| 2001 |
Matern D, Schehata BM, Shekhawa P, Strauss AW, Bennett MJ, Rinaldo P. Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Molecular Genetics and Metabolism. 72: 265-8. PMID 11243734 DOI: 10.1006/Mgme.2000.3135 |
0.344 |
|
| 2001 |
Rinaldo P, Studinski AL, Matern D. Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation Prenatal Diagnosis. 21: 52-54. PMID 11180241 DOI: 10.1002/1097-0223(200101)21:1<52::Aid-Pd973>3.0.Co;2-H |
0.391 |
|
| 2001 |
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, et al. Role of common gene variations in the molecular pathogenesis of short-chain Acyl-CoA dehydrogenase deficiency Pediatric Research. 49: 18-23. PMID 11134486 DOI: 10.1203/00006450-200101000-00008 |
0.368 |
|
| 2001 |
Bennett MJ, Rinaldo P. The metabolic autopsy comes of age. Clinical Chemistry. 47: 1145-1146. DOI: 10.1093/Clinchem/47.7.1145 |
0.309 |
|
| 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: 512-517. DOI: 10.1002/Ana.101 |
0.316 |
|
| 2000 |
Rinaldo P, Matern D. Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation. Genetics in Medicine. 2: 338-344. PMID 11339654 DOI: 10.1097/00125817-200011000-00006 |
0.417 |
|
| 2000 |
Charrow J, Goodman SI, McCabe ERG, Rinaldo P. Tandem mass spectrometry in newborn screening Genetics in Medicine. 2: 267-269. PMID 11252712 DOI: 10.1097/00125817-200007000-00011 |
0.327 |
|
| 2000 |
Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways Molecular Genetics and Metabolism. 71: 10-18. PMID 11001791 DOI: 10.1006/Mgme.2000.3066 |
0.329 |
|
| 2000 |
Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatric Research. 47: 830-3. PMID 10832746 DOI: 10.1203/00006450-200006000-00025 |
0.345 |
|
| 2000 |
Bennett MJ, Rinaldo P, Strauss AW. Inborn errors of mitochondrial fatty acid oxidation. Critical Reviews in Clinical Laboratory Sciences. 37: 1-44. PMID 10737439 DOI: 10.1080/10408360091174169 |
0.364 |
|
| 2000 |
Fujii K, Matsubara Y, Akanuma J, Takahashi K, Kure S, Suzuki Y, Imaizumi M, Iinuma K, Sakatsume O, Rinaldo P, Narisawa K. Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency. Human Mutation. 15: 189-196. PMID 10649496 DOI: 10.1002/(Sici)1098-1004(200002)15:2<189::Aid-Humu8>3.0.Co;2-H |
0.306 |
|
| 2000 |
Hahn SH, Lee EH, Eun BL, Rinaldo P. Riboflavin responsive ethylmalonic encephalopathy in two Korean sibs Genetics in Medicine. 2: 72-72. DOI: 10.1097/00125817-200001000-00076 |
0.34 |
|
| 2000 |
Gibson KM, Burlingame T, Hogema B, Jakobs C, Schutgens RBH, Millington D, Roe C, Roe D, Sweetman L, Steiner RD, Linck L, Pohowalla P, Kiss D, Sacks M, Rinaldo P, et al. 2-Methylbutyryl-CoA dehydrogenase (2-MBCDase) deficiency: a new inborn error of L-isoleucine metabolism Genetics in Medicine. 2: 71-72. DOI: 10.1097/00125817-200001000-00074 |
0.364 |
|
| 2000 |
Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ. Improved Stable Isotope Dilution-Gas Chromatography-Mass Spectrometry Method for Serum or Plasma Free 3-Hydroxy-Fatty Acids and Its Utility for the Study of Disorders of Mitochondrial Fatty Acid β-Oxidation Clinical Chemistry. 46: 149-155. DOI: 10.1093/Clinchem/46.2.149 |
0.383 |
|
| 2000 |
Magera MJ, Helgeson JK, Matern D, Rinaldo P. Methylmalonic Acid Measured in Plasma and Urine by Stable-Isotope Dilution and Electrospray Tandem Mass Spectrometry Clinical Chemistry. 46: 1804-1810. DOI: 10.1093/Clinchem/46.11.1804 |
0.327 |
|
| 2000 |
Yoon HR, Paik MJ, Shin HS, Yu C, Rinaldo P. Analysis of plasma free fatty acid cyanomethyl derivatives by GC-NPD for the diagnosis of mitochondrial fatty acid oxidation disorders Chromatographia. 52: 211-216. DOI: 10.1007/Bf02490459 |
0.394 |
|
| 1999 |
Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. The New England Journal of Medicine. 340: 1723-31. PMID 10352164 DOI: 10.1056/Nejm199906033402204 |
0.32 |
|
| 1999 |
Rinaldo P, Yoon H, Yu C, Raymond K, Tiozzo C, Giordano G. Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders. Seminars in Perinatology. 23: 204-210. PMID 10331471 DOI: 10.1016/S0146-0005(99)80052-4 |
0.413 |
|
| 1999 |
Strauss AW, Bennett MJ, Rinaldo P, Sims HF, O'Brien LK, Zhao Y, Gibson B, Ibdah J. Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. Seminars in Perinatology. 23: 100-12. PMID 10331463 DOI: 10.1016/S0146-0005(99)80044-5 |
0.345 |
|
| 1999 |
Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, Hug G, Strauss AW. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 99: 1337-43. PMID 10077518 DOI: 10.1161/01.Cir.99.10.1337 |
0.382 |
|
| 1999 |
Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW. A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women Obstetrical & Gynecological Survey. 54: 679-680. DOI: 10.1097/00006254-199911000-00002 |
0.331 |
|
| 1998 |
Kurtz DM, Rinaldo P, Rhead WJ, Tian L, Millington DS, Vockley J, Hamm DA, Brix AE, Lindsey JR, Pinkert CA, O'Brien WE, Wood PA. Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation. Proceedings of the National Academy of Sciences of the United States of America. 95: 15592-7. PMID 9861014 DOI: 10.1073/Pnas.95.26.15592 |
0.369 |
|
| 1998 |
Rinaldo P, Raymond K, Al-Odaib A, Bennett MJ. Clinical and biochemical features of fatty acid oxidation disorders. Current Opinion in Pediatrics. 10: 615-621. PMID 9848022 DOI: 10.1097/00008480-199810060-00014 |
0.395 |
|
| 1998 |
Odaib AA, Shneider BL, Bennett MJ, Pober BR, Reyes-Mugica M, Friedman AL, Suchy FJ, Rinaldo P. A defect in the transport of long-chain fatty acids associated with acute liver failure. The New England Journal of Medicine. 339: 1752-7. PMID 9845710 DOI: 10.1056/Nejm199812103392405 |
0.348 |
|
| 1998 |
Boles RG, Buck EA, Blitzer MG, Platt MS, Cowan TM, Martin SK, Yoon H, Madsen JA, Reyes-Mugica M, Rinaldo P. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. The Journal of Pediatrics. 132: 924-33. PMID 9627580 DOI: 10.1016/S0022-3476(98)70385-3 |
0.395 |
|
| 1997 |
Kamijo T, Indo Y, Souri M, Aoyama T, Hara T, Yamamoto S, Ushikubo S, Rinaldo P, Matsuda I, Komiyama A, Hashimoto T. Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Pediatric Research. 42: 569-76. PMID 9357925 DOI: 10.1203/00006450-199711000-00002 |
0.373 |
|
| 1997 |
Rinaldo P, Stanley CA, Hsu BYL, Sanchez LA, Stern HJ. Sudden neonatal death in carnitine transporter deficiency Journal of Pediatrics. 131: 304-305. PMID 9290621 DOI: 10.1016/S0022-3476(97)70171-9 |
0.302 |
|
| 1996 |
Bennett MJ, Weinberger MJ, Kobori JA, Rinaldo P, Burlina AB. Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. Pediatric Research. 39: 185-8. PMID 8825408 DOI: 10.1203/00006450-199601000-00031 |
0.358 |
|
| 1996 |
Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, Christensen E, Kristensen TJ, Andresen BS, Bross P, Winter V, Martinez G, Neve S, Jensen TG, Bolund L, et al. Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase Pediatric Research. 39: 1059-1066. PMID 8725270 DOI: 10.1203/00006450-199606000-00021 |
0.332 |
|
| 1995 |
Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency The Journal of Pediatrics. 126: 910-915. PMID 7776094 DOI: 10.1016/S0022-3476(95)70207-5 |
0.413 |
|
| 1995 |
Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, Strauss AW. Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. The Journal of Clinical Investigation. 95: 2076-82. PMID 7738175 DOI: 10.1172/Jci117894 |
0.307 |
|
| 1995 |
Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clinical Chemistry. 41: 1109-1114. DOI: 10.1093/Clinchem/41.8.1109 |
0.402 |
|
| 1994 |
Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F, Rinaldo P. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts The Journal of Pediatrics. 124: 79-86. PMID 8283379 DOI: 10.1016/S0022-3476(94)70257-8 |
0.372 |
|
| 1994 |
Boles RG, Martin SK, Blitzer MG, Rinaldo P. Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver. Human Pathology. 25: 735-41. PMID 8056418 DOI: 10.1016/0046-8177(94)90240-2 |
0.442 |
|
| 1994 |
Brackett JC, Sims HF, Steiner RD, Nunge M, Zimmerman EM, deMartinville B, Rinaldo P, Slaugh R, Strauss AW. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. The Journal of Clinical Investigation. 94: 1477-83. PMID 7929823 DOI: 10.1172/Jci117486 |
0.368 |
|
| 1994 |
Treem WR, Rinaldo P, Hale DE, Stanley CA, Millington DS, Hyams JS, Jackson S, Turnbull DM. Acute fatty liver of pregnancy and long‐chain 3‐hydroxyacyl–coenzyme A dehydrogenase deficiency Hepatology. 19: 339-345. DOI: 10.1002/Hep.1840190211 |
0.349 |
|
| 1993 |
Rinaldo P, Schmidt-Sommerfeld E, Posca AP, Heales SJ, Woolf DA, Leonard JV. Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. The Journal of Pediatrics. 122: 580-4. PMID 8463904 DOI: 10.1016/S0022-3476(05)83539-5 |
0.312 |
|
| 1993 |
Bennett MJ, Gibson KM, Sherwood WG, Divry P, Rolland MO, Elpeleg ON, Rinaldo P, Jakobs C. Reliable Prenatal Diagnosis of Canavan Disease (Aspartoacylase Deficiency): Comparison of Enzymatic and Metabolite Analysis Journal of Inherited Metabolic Disease. 16: 831-836. PMID 8295397 DOI: 10.1007/Bf00714274 |
0.304 |
|
| 1993 |
Sewell AC, Herwig J, Böhles H, Rinaldo P, Bhala A, Hale DE. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. European Journal of Pediatrics. 152: 922-924. PMID 8276024 DOI: 10.1007/Bf01957531 |
0.335 |
|
| 1993 |
Kossak BD, Schmidt-Sommerfeld E, Schoeller DA, Rinaldo P, Penn D, Tonsgard JH. Impaired fatty acid oxidation in children on valproic acid and the effect of L-carnitine. Neurology. 43: 2362-8. PMID 8232957 DOI: 10.1212/Wnl.43.11.2362 |
0.345 |
|
| 1993 |
Boles RG, Ment LR, Meyn MS, Horwich AL, Kratz LE, Rinaldo P. Short-term response to dietary therapy in molybdenum cofactor deficiency. Annals of Neurology. 34: 742-4. PMID 7694543 DOI: 10.1002/Ana.410340520 |
0.314 |
|
| 1992 |
Schmidt-Sommerfeld E, Penn D, Rinaldo P, Kossak D, Li BU, Huang ZH, Gage DA. Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method. Pediatric Research. 31: 545-51. PMID 1635814 DOI: 10.1203/00006450-199206000-00002 |
0.405 |
|
| 1992 |
Woolf AD, Wynshaw-Boris A, Rinaldo P, Levy HL. Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder. The Journal of Pediatrics. 120: 421-4. PMID 1538289 DOI: 10.1016/S0022-3476(05)80910-2 |
0.32 |
|
| 1992 |
Schmidt-Sommerfeld E, Kossak BD, Penn D, Tonsgard JH, Schoeller DA, Rinaldo P, Huang Z, Gage DA. THE EFFECT OF VALPROIC ACID ON FATTY ACID OXIDATION BEFORE AND AFTER L-CARNITINE SUPPLEMENTATION Pediatric Research. 32: 625-625. DOI: 10.1203/00006450-199211000-00124 |
0.355 |
|
| 1991 |
Rinaldo P, Welch RD, Previs SF, Schmidt-Sommerfeld E, Gargus JJ, O’Shea JJ, Zinn AB. Ethylmalonic/adipic aciduria: Effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines Pediatric Research. 30: 216-221. PMID 1945558 DOI: 10.1203/00006450-199109000-00002 |
0.329 |
|
| 1991 |
Shimizu N, Yamaguchi S, Orii T, Previs SF, Rinaldo P. Mass spectrometric analysis of metabolite excretion in five Japanese patients with the late-onset form of glutaric aciduria type II. Journal of Mass Spectrometry. 20: 479-483. PMID 1768704 DOI: 10.1002/Bms.1200200808 |
0.35 |
|
| 1991 |
Yamaguchi S, Shimizu N, Orii T, Fukao T, Suzuki Y, Maeda K, Hashimoto T, Previs SF, Rinaldo P. Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (β-subunit) deficiency Pediatric Research. 30: 439-443. PMID 1754299 DOI: 10.1203/00006450-199111000-00009 |
0.349 |
|
| 1990 |
Rinaldo P, O’Shea JJ, Welch RD, Tanaka K. The enzymatic basis for the dehydrogenation of 3-phenylpropionic acid: In vitro reaction of 3-phenylpropionyl-CoA with various acyl-CoA dehydrogenases Pediatric Research. 27: 501-507. PMID 2345678 DOI: 10.1203/00006450-199005000-00017 |
0.36 |
|
| 1990 |
Bennett MJ, Coates PM, Hale DE, Millington DS, Pollitt RJ, Rinaldo P, Roe CR, Tanaka K. Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease. 13: 707-715. PMID 2246856 DOI: 10.1007/Bf01799572 |
0.35 |
|
| 1990 |
Giordano G, McMurray WJ, Previs SF, Welch RD, Rinaldo P. Identification of 2-(2'-octenyl) succinic acid in urine Rapid Communications in Mass Spectrometry : Rcm. 4: 170-172. PMID 2134344 DOI: 10.1002/Rcm.1290040509 |
0.319 |
|
| 1989 |
Rinaldo P, O’Shea JJ, Goodman SI, Miller LV, Fennessey PV, Whelan DT, Hill RE, Tanaka K. Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease. 12: 325-328. PMID 2512435 DOI: 10.1007/Bf03335412 |
0.383 |
|
| 1989 |
Daolio S, Bonsembiante M, Bittante G, Ramanzin M, Rinaldo P. Ruminal organic acid analysis by gas chromatography/mass spectrometry Journal of Agricultural and Food Chemistry. 37: 970-974. DOI: 10.1021/Jf00088A032 |
0.343 |
|
| 1988 |
Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine New England Journal of Medicine. 319: 1308-1313. PMID 3054550 DOI: 10.1056/Nejm198811173192003 |
0.371 |
|
| 1987 |
Rubaltelli FF, Orzali A, Rinaldo P, Donzelli F, Carnielli V. Carnitine and the premature Neonatology. 52: 65-77. PMID 3327535 DOI: 10.1159/000242740 |
0.343 |
|
| 1987 |
Rinaldo P, O'Shea J, Tanaka K. Stable Isotope Dilution Method For Diagnosis Of Medium Chain Acyl-Coa Dehydrogenase Deficiency The Lancet. 330: 1158. PMID 2890064 DOI: 10.1016/S0140-6736(87)91597-2 |
0.318 |
|
| 1986 |
Di Donato S, Frerman FE, Rimoldi M, Rinaldo P, Taroni F, Wiesmann UN. Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase. Neurology. 36: 957-63. PMID 3714057 DOI: 10.1212/Wnl.36.7.957 |
0.31 |
|
| 1985 |
Rinaldo P, Miolo G, Chiandetti L, Zacchello F, Daolio S, Traldi P. Hydroxyl negative chemical ionization mass spectrometry linked with collisionally activated decomposition. A modern analytical tool in inborn errors of metabolism. Journal of Mass Spectrometry. 12: 570-576. PMID 2932187 DOI: 10.1002/Bms.1200120922 |
0.33 |
|
| 1984 |
Rinaldo P, Chiandetti L, Zacchello F, Daolio S, Traldi P. CAD MIKES: A new method for a rapid and unequivocal structural identification of organic acids in biological fluids. A first application to a case of methylmalonic aciduria Journal of Mass Spectrometry. 11: 643-646. PMID 6529595 DOI: 10.1002/Bms.1200111209 |
0.315 |
|
| Show low-probability matches. |