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Three Families with Mild PMM2-CDG and Normal Cognitive Development

Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause...

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Detalles Bibliográficos
Publicado en:Am J Med Genet A
Main Authors: Vals, Mari-Anne, Morava, Eva, Teeäär, Kai, Zordania, Riina, Pajusalu, Sander, Lefeber, Dirk J., Õunap, Katrin
Formato: Artigo
Idioma:Inglês
Publicado: 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5444958/
https://ncbi.nlm.nih.gov/pubmed/28425223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38235
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