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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: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Springer Berlin Heidelberg
2011
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| Assuntos: | |
| Acceso en liña: | 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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