Carregant...

Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency

We aim to analyze the blood metabolic profiling and the gene mutation of ornithine transcarbamylase (OTC) in three neonates with ornithine transcarbamylase deficiency (OTCD). Three neonates with OTCD were included in this study. The profiling of amino acids and acylcarnitine was determined using MS-...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Int J Clin Exp Med
Autors principals: Liu, Jing, Dong, Lei, Wang, Yan, Zhang, Mei
Format: Artigo
Idioma:Inglês
Publicat: e-Century Publishing Corporation 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402862/
https://ncbi.nlm.nih.gov/pubmed/25932215
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!