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Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China

BACKGROUND: Glutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency. This article reports our experience in the diagnosis, treatment and outcome of GA I patients in Zhejiang Province, China. MATERIAL/METHODS: A total of...

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Detalles Bibliográficos
Autores principales: Yang, Lili, Yin, Huaiming, Yang, Rongwang, Huang, Xinwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539576/
https://www.ncbi.nlm.nih.gov/pubmed/21709643
http://dx.doi.org/10.12659/MSM.881834