A carregar...
Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/q...
Na minha lista:
| Publicado no: | J Child Neurol |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6028016/ https://ncbi.nlm.nih.gov/pubmed/23034980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812460581 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|