Loading...

Lymphatic Edema in Congenital Disorders of Glycosylation

Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, fail...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Verstegen, Ruud HJ, Theodore, Miranda, van de Klerk, Hans, Morava, Eva
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509901/
https://ncbi.nlm.nih.gov/pubmed/23430905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_82
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!