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Expanding the Spectrum of PMM2-CDG Phenotype
Congenital Disorders of Glycosylation (CDG) are a group of recently described inborn errors of metabolism affecting glycosylation. CDG are disorders that have been reported with a great variability in the clinical presentation, especially for the most common PMM2-CDG. The classical form is neurologi...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Berlin Heidelberg
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3509917/ https://ncbi.nlm.nih.gov/pubmed/23430927 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_114 |
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