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TMEM165 Deficiency: Postnatal Changes in Glycosylation
Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic disorder. We describe a patient with TMEM165-CDG with facial dysmorphism, nephrotic syndro...
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| 出版年: | JIMD Rep |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Berlin Heidelberg
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5580733/ https://ncbi.nlm.nih.gov/pubmed/26238249 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_455 |
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