A carregar...
The neurology of rhizomelic chondrodysplasia punctata
BACKGROUND: To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis is...
Na minha lista:
| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2013
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4228450/ https://ncbi.nlm.nih.gov/pubmed/24172221 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-174 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|