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5. Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency. Beekman RP; Hofstee N; Smeitink JA; Poll-The BT; Duran M Eur J Pediatr; 1994 Apr; 153(4):264-6. PubMed ID: 8194560 [TBL] [Abstract][Full Text] [Related]
6. Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency. Rinaldo P; O'Shea JJ; Goodman SI; Miller LV; Fennessey PV; Whelan DT; Hill RE; Tanaka K J Inherit Metab Dis; 1989; 12 Suppl 2():325-8. PubMed ID: 2512435 [No Abstract] [Full Text] [Related]
7. 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]
8. The HELLP syndrome associated wiht fetal medium-chain acyl-CoA dehydrogenase deficiency. Nelson J; Lewis B; Walters B J Inherit Metab Dis; 2000 Jul; 23(5):518-9. PubMed ID: 10947209 [No Abstract] [Full Text] [Related]
9. Biochemical characterisation of mutations of human medium-chain acyl-CoA dehydrogenase. Udvari S; Bross P; Andresen BS; Gregersen N; Engel PC Adv Exp Med Biol; 1999; 466():387-93. PubMed ID: 10709667 [No Abstract] [Full Text] [Related]
12. Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. Coates PM; Hale DE; Finocchiaro G; Tanaka K; Winter SC J Clin Invest; 1988 Jan; 81(1):171-5. PubMed ID: 3335634 [TBL] [Abstract][Full Text] [Related]
13. Medium chain acyl-CoA dehydrogenase deficiency in the United Kingdom. Curtis D; Blakemore AI; Engel PC; Kolvraa S; Gregersen N; Pollitt RJ Prog Clin Biol Res; 1992; 375():489-94. PubMed ID: 1438392 [No Abstract] [Full Text] [Related]
14. [Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory]. Heinonen OJ; Iitiä A; Irjala K; Pulkki K Duodecim; 1996; 112(1):35-41. PubMed ID: 10590599 [No Abstract] [Full Text] [Related]
15. 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]
16. Anesthetic considerations for a patient with compound heterozygous medium-chain Acyl-CoA dehydrogenase deficiency. Wang SY; Kannan S; Shay D; Segal S; Datta S; Tsen L Anesth Analg; 2002 Jun; 94(6):1595-7, table of contents. PubMed ID: 12032035 [TBL] [Abstract][Full Text] [Related]
17. Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency. Christodoulou J; Clarke JT; Rupar CA; Gordon BA; Kelly DP J Paediatr Child Health; 1993 Jun; 29(3):237-8. PubMed ID: 8518011 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Historical perspective of medium-chain acyl-CoA dehydrogenase deficiency: a decade of discovery. Coates PM Prog Clin Biol Res; 1992; 375():409-23. PubMed ID: 1438385 [No Abstract] [Full Text] [Related]
20. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Sewell AC; Herwig J; Böhles H; Rinaldo P; Bhala A; Hale DE Eur J Pediatr; 1993 Nov; 152(11):922-4. PubMed ID: 8276024 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]