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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |