A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the general population is estimated to be 9/1,000,000...

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Detalles Bibliográficos
Autores principales: Chautard, Robin, Laroche-Raynaud, Cécile, Lia, Anne-Sophie, Chazelas, Pauline, Derouault, Paco, Sturtz, Franck, Baaj, Yasser, Veauville-Merllié, Alice, Acquaviva, Cécile, Favreau, Frédéric, Faye, Pierre-Antoine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990490/
https://www.ncbi.nlm.nih.gov/pubmed/31996215
http://dx.doi.org/10.1186/s12920-020-0665-6

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