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Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an inherited disorder of mitochondrial fatty acid β-oxidation that impairs fasting ketogenesis and gluconeogenesis in the liver. Few studies implementing newborn screening (NBS) for CPT1A deficiency in the Chinese population have been reported....

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Detalles Bibliográficos
Autores principales:	Zhang, Weifeng, Chen, Yanru, Lin, Chunmei, Peng, Weilin, Fu, Qingliu, Lin, Yiming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633485/ https://www.ncbi.nlm.nih.gov/pubmed/34869124 http://dx.doi.org/10.3389/fped.2021.771922

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