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23. Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Yang BZ; Ding JH; Zhou C; Dimachkie MM; Sweetman L; Dasouki MJ; Wilkinson J; Roe CR Mol Genet Metab; 2000 Mar; 69(3):259-62. PubMed ID: 10767181 [TBL] [Abstract][Full Text] [Related]
24. Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. Morris AA; Taylor RW; Lightowlers RN; Aynsley-Green A; Bartlett K; Turnbull DM Hum Mol Genet; 1995 Apr; 4(4):747-9. PubMed ID: 7633427 [No Abstract] [Full Text] [Related]
25. Acylcarnitines in the urine of a patient with medium chain acyl-CoA dehydrogenase (MCAD) deficiency and in normal children. Schmidt-Sommerfeld E; Penn D; Kerner J; Bieber LL Prog Clin Biol Res; 1990; 321():403-9. PubMed ID: 2326301 [No Abstract] [Full Text] [Related]
34. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. Derks TG; Reijngoud DJ; Waterham HR; Gerver WJ; van den Berg MP; Sauer PJ; Smit GP J Pediatr; 2006 May; 148(5):665-670. PubMed ID: 16737882 [TBL] [Abstract][Full Text] [Related]
35. The metabolic crisis: a diagnostic challenge [editoria; comment]. Bove KE J Pediatr; 1997 Aug; 131(2):181-2. PubMed ID: 9290601 [No Abstract] [Full Text] [Related]
36. Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan. Tajima G; Sakura N; Yofune H; Nishimura Y; Ono H; Hasegawa Y; Hata I; Kimura M; Yamaguchi S; Shigematsu Y; Kobayashi M J Chromatogr B Analyt Technol Biomed Life Sci; 2005 Sep; 823(2):122-30. PubMed ID: 16046200 [TBL] [Abstract][Full Text] [Related]
37. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. Turnbull DM; Bartlett K; Stevens DL; Alberti KG; Gibson GJ; Johnson MA; McCulloch AJ; Sherratt HS N Engl J Med; 1984 Nov; 311(19):1232-6. PubMed ID: 6493275 [No Abstract] [Full Text] [Related]
38. Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency. Divry P; Vianey-Liaud C; Cotte J J Inherit Metab Dis; 1984; 7 Suppl 1():44-7. PubMed ID: 6434844 [TBL] [Abstract][Full Text] [Related]
39. Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population. Kozàk L; Hrabincovà E; Rudolfoà J; Vràbelovà S; Freiberger T Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():49-50. PubMed ID: 11400780 [TBL] [Abstract][Full Text] [Related]
40. Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. la Marca G; Malvagia S; Donati MA; Morrone A; Pasquini E; Zammarchi E Rapid Commun Mass Spectrom; 2003; 17(23):2688-92. PubMed ID: 14648909 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]