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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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| Publicado en: | Am J Med Genet A |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2017
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| Assuntos: | |
| 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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