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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Bams-Mengerink, Annemieke M, Koelman, Johannes HTM, Waterham, Hans, Barth, Peter G, Poll-The, Bwee Tien
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Research
Accès en ligne: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: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires