A carregar...
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
BACKGROUND: ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa type 3A (ARCL3A). These diseases exhibit a broad clinical sp...
Na minha lista:
| Publicado no: | BMC Neurol |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7876803/ https://ncbi.nlm.nih.gov/pubmed/33573605 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-021-02087-x |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|