Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening

BACKGROUND: In infancy multiple acyl-CoA dehydrogenase deficiency (MADD) is commonly a severe inherited metabolic disease caused by genetic defects in electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase. Both enzymes require flavin adenine dinucleotide (FAD) as a cofactor. Riboflav...

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Detalles Bibliográficos
Autores principales: Gramer, Gwendolyn, Hoffmann, Georg F., Hennermann, Julia B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941148/
https://www.ncbi.nlm.nih.gov/pubmed/33732619
http://dx.doi.org/10.1016/j.ymgmr.2021.100738

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