A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the genes encoding the electron transfer flavoproteins A and B (ETFs...

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Detalles Bibliográficos
Autores principales: De Pasquale, Loredana, Meo, Petronilla, Fulia, Francesco, Anania, Antonio, Meli, Valerio, Mondello, Antonina, Raimondo, Maria Tindara, Tulino, Viviana, Coletta, Maria Sole, Cacace, Caterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446717/
https://www.ncbi.nlm.nih.gov/pubmed/36064718
http://dx.doi.org/10.1186/s13052-022-01356-w

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