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6. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. Bentler K; Zhai S; Elsbecker SA; Arnold GL; Burton BK; Vockley J; Cameron CA; Hiner SJ; Edick MJ; Berry SA; Mol Genet Metab; 2016 Sep; 119(1-2):75-82. PubMed ID: 27477829 [TBL] [Abstract][Full Text] [Related]
7. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Tyni T; Paetau A; Strauss AW; Middleton B; Kivelä T Pediatr Res; 2004 Nov; 56(5):744-50. PubMed ID: 15347768 [TBL] [Abstract][Full Text] [Related]
8. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. He M; Rutledge SL; Kelly DR; Palmer CA; Murdoch G; Majumder N; Nicholls RD; Pei Z; Watkins PA; Vockley J Am J Hum Genet; 2007 Jul; 81(1):87-103. PubMed ID: 17564966 [TBL] [Abstract][Full Text] [Related]
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12. Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. Grünert SC; Wehrle A; Villavicencio-Lorini P; Lausch E; Vetter B; Schwab KO; Tucci S; Spiekerkoetter U BMC Med Genet; 2015 Jul; 16():56. PubMed ID: 26223887 [TBL] [Abstract][Full Text] [Related]
13. Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation. Gargus JJ; Boyle K; Bocian M; Roe DS; Vianey-Saban C; Roe CR J Inherit Metab Dis; 2003; 26(7):659-70. PubMed ID: 14707514 [TBL] [Abstract][Full Text] [Related]
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17. A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. Battisti C; Forte F; Molinelli M; Funghini S; Pasquini E; Tassini M; Dotti MT; Federico A Neurol Sci; 2007 Dec; 28(6):328-30. PubMed ID: 18175080 [TBL] [Abstract][Full Text] [Related]
18. Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants. Dessein AF; Fontaine M; Joncquel-Chevalier Curt M; Briand G; Sechter C; Mention-Mulliez K; Dobbelaere D; Douillard C; Lacour A; Redonnet-Vernhet I; Lamireau D; Barth M; Minot-Myhié MC; Kuster A; de Lonlay P; Gregersen N; Acquaviva C; Vianey-Saban C; Vamecq J Clin Chim Acta; 2017 Aug; 471():101-106. PubMed ID: 28532786 [TBL] [Abstract][Full Text] [Related]
19. Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts. Rhead W; Roettger V; Marshall T; Amendt B Pediatr Res; 1993 Feb; 33(2):129-35. PubMed ID: 8433888 [TBL] [Abstract][Full Text] [Related]
20. Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype? Lehotay DC; LePage J; Thompson JR; Rockman-Greenberg C J Inherit Metab Dis; 2004; 27(1):81-8. PubMed ID: 14970748 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]