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Progress in mechanisms of citrin deficiency / 国际儿科学杂志
International Journal of Pediatrics ; (6): 218-221, 2010.
Artigo em Chinês | WPRIM | ID: wpr-390446
ABSTRACT
Citrin deficiency is an autosomal recessive disorder caused by mutations of the SLC25A13 gene.As a calcium binding mitochondrial aspartate glutamate carrier,Citrin plays an important role not only in the urea synthesis but NADH shuttle as well.Citrin deficiency has two phenotypesadult-onset typeⅡcitrullinemia and neonatal intrahepatic cholestasis.Citrin deficiency is a common congenital metabolic defect first found in Japan and now is considered as a global disease.

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: International Journal of Pediatrics Ano de publicação: 2010 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: International Journal of Pediatrics Ano de publicação: 2010 Tipo de documento: Artigo