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4. 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]
5. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. Gregersen N; Blakemore AI; Winter V; Andresen B; Kølvraa S; Bolund L; Curtis D; Engel PC Clin Chim Acta; 1991 Nov; 203(1):23-34. PubMed ID: 1769118 [TBL] [Abstract][Full Text] [Related]
6. Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome. Miller ME; Brooks JG; Forbes N; Insel R Pediatr Res; 1992 Apr; 31(4 Pt 1):305-7. PubMed ID: 1570195 [TBL] [Abstract][Full Text] [Related]
8. Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France? Ged C; el Sebai H; de Verneuil H; Parrot-Rouleau F J Inherit Metab Dis; 1995; 18(2):253-6. PubMed ID: 7564261 [No Abstract] [Full Text] [Related]
9. [Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]. Derks TG; Jakobs H; Gerding A; Niezen-Koning KE; Reijngoud DJ; Smit GP Ned Tijdschr Geneeskd; 2004 Oct; 148(44):2185-90. PubMed ID: 15559414 [TBL] [Abstract][Full Text] [Related]
10. Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system. Seddon HR; Gray G; Pollitt RJ; Iitiä A; Green A Clin Chem; 1997 Mar; 43(3):436-42. PubMed ID: 9068586 [TBL] [Abstract][Full Text] [Related]
12. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Tanaka K; Yokota I; Coates PM; Strauss AW; Kelly DP; Zhang Z; Gregersen N; Andresen BS; Matsubara Y; Curtis D Hum Mutat; 1992; 1(4):271-9. PubMed ID: 1363805 [TBL] [Abstract][Full Text] [Related]
13. Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Sermon K; Henderix P; Lissens W; De Vos A; Vandervorst M; Vanderfaeillie A; Vamos E; Van Steirteghem A; Liebaers I Mol Hum Reprod; 2000 Dec; 6(12):1165-8. PubMed ID: 11101700 [TBL] [Abstract][Full Text] [Related]
14. Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats. Zhang Z; Kolvraa S; Zhou Y; Kelly DP; Gregersen N; Strauss AW Am J Hum Genet; 1993 Jun; 52(6):1111-21. PubMed ID: 8099254 [TBL] [Abstract][Full Text] [Related]
15. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. Brackett JC; Sims HF; Steiner RD; Nunge M; Zimmerman EM; deMartinville B; Rinaldo P; Slaugh R; Strauss AW J Clin Invest; 1994 Oct; 94(4):1477-83. PubMed ID: 7929823 [TBL] [Abstract][Full Text] [Related]
16. Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death. Bennett MJ; Pollitt RJ; Taitz LS; Variend S Clin Chem; 1990 Sep; 36(9):1695-7. PubMed ID: 2208722 [TBL] [Abstract][Full Text] [Related]
17. Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child. Shetty AK; Craver RD; Harris JA; Schmidt-Sommerfeld E Pediatr Emerg Care; 1999 Dec; 15(6):399-401. PubMed ID: 10608324 [TBL] [Abstract][Full Text] [Related]
18. Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome. Santer R; Schmidt-Sommerfeld E; Leung YK; Fischer JE; Lebenthal E Eur J Pediatr; 1990 Dec; 150(2):111-4. PubMed ID: 2279505 [TBL] [Abstract][Full Text] [Related]
19. 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. Schmidt-Sommerfeld E; Penn D; Rinaldo P; Kossak D; Li BU; Huang ZH; Gage DA Pediatr Res; 1992 Jun; 31(6):545-51. PubMed ID: 1635814 [TBL] [Abstract][Full Text] [Related]
20. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Wilson CJ; Champion MP; Collins JE; Clayton PT; Leonard JV Arch Dis Child; 1999 May; 80(5):459-62. PubMed ID: 10208954 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]