Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder

Background: Primary serine deficiency disorders have a broad range of the phenotypic spectrum. As an inborn error of metabolism, individuals with severe phenotype may be easily recognized with Neu-Laxova syndrome. However, late-onset mild phenotypes may be underdiagnosed and will lead to disastrous...

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Detalles Bibliográficos
Autores principales: Shen, Yu, Peng, Yun, Huang, Pengcheng, Zheng, Yilei, Li, Shumeng, Jiang, Kaiyan, Zhou, Meihong, Deng, Jianwen, Zhu, Min, Hong, Daojun
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/PMC9428789/
https://www.ncbi.nlm.nih.gov/pubmed/36061210
http://dx.doi.org/10.3389/fgene.2022.949038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428789/
https://www.ncbi.nlm.nih.gov/pubmed/36061210
http://dx.doi.org/10.3389/fgene.2022.949038

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