AB101. Neonatal form of Isovaleric acidemia in Vietnamese patients: clinical history and outcomes

BACKGROUND AND OBJECTIVE: Isovaleric academia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD). The clinical presentation of IVA appears to be highly variable ranging from severely affected to asy...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Ann Transl Med
Main Authors: Nguyen, Khanh Ngoc, Vu, Dung Chi, Can, Ngoc Thi Bich, Bui, Thao Phuong, Nguyen, Mai Chi, Yamaguchi, Seiji
Formato: Artigo
Idioma:Inglês
Publicado: AME Publishing Company 2015
Assuntos:
Part 4: Oral/poster
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563459/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB101
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares