Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature

Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia min...

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Detalles Bibliográficos
Autores principales: Saral, Neslihan Yildirim, Aksungar, Fehime Benli, Aktuglu-Zeybek, Cigdem, Coskun, Julide, Demirelce, Ozlem, Serteser, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6264994/
https://www.ncbi.nlm.nih.gov/pubmed/30510944
http://dx.doi.org/10.12998/wjcc.v6.i14.786

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