Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area

Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine transporter. PCD is typically identified in childhood by either hypoketotic hypoglycemia, or skeletal and cardiac myopathy...

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Detalles Bibliográficos
Autores principales: Zhou, Wei, Li, Huizhong, Huang, Ting, Zhang, Yan, Wang, Chuanxia, Gu, Maosheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399307/
https://www.ncbi.nlm.nih.gov/pubmed/30863740
http://dx.doi.org/10.3389/fped.2019.00050

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399307/
https://www.ncbi.nlm.nih.gov/pubmed/30863740
http://dx.doi.org/10.3389/fped.2019.00050

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