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Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
BACKGROUND: Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and molecular findings of CDG patients, and to present the long-term follow-up. MATERIA...
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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7789416/ https://ncbi.nlm.nih.gov/pubmed/33407696 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01657-5 |
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