Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review

RATIONALE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid, amino acid, and choline metabolism. The clinical manifestation of MADD is heterogeneous, from severe neonatal forms to mild late-onset forms. PATIENT CONCERNS: Here, we report a pa...

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Detalles Bibliográficos
Autores principales: Ding, Meijuan, Liu, Ruihua, Qiubo, Li, Zhang, Yanke, Kong, Qingxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7489629/
https://www.ncbi.nlm.nih.gov/pubmed/32925727
http://dx.doi.org/10.1097/MD.0000000000021944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7489629/
https://www.ncbi.nlm.nih.gov/pubmed/32925727
http://dx.doi.org/10.1097/MD.0000000000021944

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