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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...

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Main Authors: Verstegen, Ruud HJ, Theodore, Miranda, van de Klerk, Hans, Morava, Eva
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2011
Teme:
Online dostop: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
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