Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China

Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2). Patients with PCD may be at risk of skeletal or cardiac myopathy, metabolic decompensation, and even sudden death. This st...

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Detalles Bibliográficos
Autores principales: Chang, Siyu, Yang, Yi, Xu, Feng, Ji, Wenjun, Zhan, Xia, Gao, Xiaolan, Chen, Ting, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Zhang, Kaichuang, Gu, Xuefan, Han, Lianshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9772520/
https://www.ncbi.nlm.nih.gov/pubmed/36568374
http://dx.doi.org/10.3389/fgene.2022.1062715

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9772520/
https://www.ncbi.nlm.nih.gov/pubmed/36568374
http://dx.doi.org/10.3389/fgene.2022.1062715

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