Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Very-long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in mitochondrial fatty acid beta-oxidation. VLCAD deficiency is clinically heterogenous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and high incidence of cardiomyopath...

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Main Authors: Andresen, B S, Olpin, S, Poorthuis, B J, Scholte, H R, Vianey-Saban, C, Wanders, R, Ijlst, L, Morris, A, Pourfarzam, M, Bartlett, K, Baumgartner, E R, deKlerk, J B, Schroeder, L D, Corydon, T J, Lund, H, Winter, V, Bross, P, Bolund, L, Gregersen, N
Format: Artigo
Language:Inglês
Published: 1999
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377757/
https://ncbi.nlm.nih.gov/pubmed/9973285
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