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Research progress of metabolomics in citrin deficiency / 中华检验医学杂志
Chinese Journal of Laboratory Medicine ; (12): 1297-1300, 2022.
Artigo em Chinês | WPRIM | ID: wpr-958660
ABSTRACT
Citrin deficiency is an autosomal recessive disorder caused by mutation of the SLC25A13 gene, and is one of the most important causes of infant cholestasis in China. The metabolic mechanism of CD is complex, involving the urea cycle, the malate aspartate cycle, the citrate malate cycle, fatty acid metabolism, carbohydrate motabolism and other metabolic pathways. Metabolomics has some applications in CD by analyzing metabolite alterations. This article provides a review for research progress of metabolomics in CD.

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Laboratory Medicine Ano de publicação: 2022 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Laboratory Medicine Ano de publicação: 2022 Tipo de documento: Artigo