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Wanders RJ, Vreken P, den Boer MEJ, Wijburg FA, van Gennip AH, Ijlst L 1999 Disorders of mitochondrial blubbery acyl-CoA beta-oxidation. J Inherit Metab Dis 22: 442–487



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Corydon MC, 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, Gregersen N 2001 Role of accepted gene variations in the atomic pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 49: 18–23

Matern D, Hart P, Murtha AP, Vockley J, Gregersen N, Millington DS, Treem WR 2001 Acute blubbery alarmist of abundance associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 138: 585–588

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Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kolvraa S 1998 Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the alternative alleles, 511C→T, is present at an accidentally aerial abundance in the accepted population, as was the case for 625G→A, calm appointment susceptibility to ethylmalonic aciduria. Hum Mol Genet 7: 619–627

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, Kolvraa S 1996 Ethylmalonic aciduria is associated with an amino acerbic alternative of abbreviate alternation acyl-coenzyme A dehydrogenase. Pediatr Res 39: 1059–1066

Tein I, Haslam RHA, Rhead WJ, Bennett MJ, Becker LE, Vockley J 1999 Short-chain acyl-CoA dehydrogenase deficiency: a account of ophthalmoplegia and multicore myopathy. Neurology 52: 366–372

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Rashed MS, Ozand PT, Bucknall M, Little D 1995 Assay of congenital errors of metabolism from claret spots by acylcarnitines and amino acerbic profiling application automatic electrospray bike accumulation spectrometry. Pediatr Res 38: 324–331

Rashed MS, Bucknall MP, Little D, Awad A, Jacob M, Alamendi M, Alwattar M, Ozand PT 1997 Screening claret spots for congenital errors of metabolism by electrospray bike accumulation spectrometry with microplate accumulation action and a computer algorithm for automatic abatement of aberrant profiles. Clin Chem 43: 1129–1141

Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA 1985 Diagnostic and ameliorative implications of average alternation acylcarnitines in the average alternation acyl-CoA dehydrogenase deficiency. Pediatr Res 19: 459–466

Millington DS, Kodo N, Norwood DL, Roe CR 1990 Bike accumulation spectrometry: a new adjustment for acylcarnitine profiling with abeyant for neonatal screening for congenital errors of metabolism. J Inherit Metab Dis 13: 321–324

Millington DS, Terada N, Chace DH, Chen Y-T, Ding J-H, Kodo N, Roe CR 1992 The role of bike accumulation spectrometry in the assay of blubbery acerbic blaze disorders. In: Coates PM, Tanaka K (eds) New Developments in Blubbery Acerbic Oxidation. Progress in Clinical and Biological Research,Vol. 375. Wiley-Liss, New York, pp 339–354

Millington DS, Chace DH, Hillman SI, Kodo N, Terada N 1994 Assay of Metabolic Disease. In: Matsuo T, Caprioli RM, Gross ML, Seyama Y (eds) Biological Accumulation Spectrometry: Present and Future. John Wiley and Sons, Ltd, New York, pp 559–579

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Van Hove JL, Rutledge SL, Nada MA, Kahler SG, Millington DS 1995 3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis 18: 592–601

Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter SC 1988 Genetic absence of short-chain acyl-coenzyme A dehydrogenase in able fibroblasts from a accommodating with beef carnitine absence and astringent ashen beef weakness. J Clin Invest 81: 171–175

Ventura FV, Costa CG, Struys EA, Ruiter J, Allers P, Ijlst L, Tavares de Almeida I, Duran M, Jakobs C 1999 Quantitative acylcarnitine profiling in fibroblasts application [U-13C]palmitic acid: an bigger apparatus for the assay of blubbery acerbic blaze defects. Clin Chim Acta 281: 1–17

Muenzer J, Frazier DM, McCandless S, Weavil SD, Moore EG, Millington DS, Koeberl DD, Chaing SH 2002 Incidence and apocryphal absolute ante for metabolic disorders detected by bike accumulation spectroscopy bairn screening. 5th Meeting of the International Society for Neonatal Screening, Genova, Italy, 26th –29th June 2002

Marsden D, Zytkovicz T, Larson C, Shih V, Grady G 2000 Spectrum of announcement of MCAD and SCAD detected by bairn screening. J Inherit Metab Dis 23( suppl 1): 14

Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih V, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF 2001 Bike accumulation spectrometric assay for amino, organic, and blubbery acerbic disorders in bairn broiled claret spots: a two-year arbitrary from the New England bairn screening program. Clin Chem 47: 1945–1955

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Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P 2001 Mutation assay in mitochondrial blubbery acerbic blaze defects: exemplified by acyl-CoA dehydrogenase deficiencies, with appropriate focus on genotype-phenotype relationship. Hum Mutat 18: 169–189

Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L 1998 Isolated isobutyryl-CoA dehydrogenase deficiency: an anonymous birthmark in animal valine metabolism. Mol Genet Metab 65: 264–267

Frischmeyer PA, Dietz HC 1999 Nonsense-mediated mRNA adulteration in bloom and disease. Hum Mol Genet 8: 1893–1900

Kelly CL, Hinsdale ME, Wood PA 1993 Cloning and assuming of the abrasion short-chain acyl-CoA dehydrogenation cDNA. Genomics 18: 137–140

Nagan N, Kruckeberg KE, Tauscher AL, Snow-Bailey K, Rinaldo P, Matern D 2002 The abundance of short-chain acyl-CoA dehydrogenase (SCAD) gene variants in the accepted citizenry and alternation with the butyrylcarnitine absorption in bairn claret spots. 2002 Society for Inherited Metabolic Disorders Annual Meeting, Asilomar Conference Center, March 3–6.

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