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High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)

Congenital disorders of glycosylation (CDGs) are a rapidly enlarging group of inherited diseases with abnormal N-glycosylation of glycoconjugates. Most patients have CDG-Ia, which is due to a phosphomannomutase (PMM) deficiency. In this article, we report that a significant portion (9 of 54) of pati...

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Главные авторы: Grünewald, Stephanie, Schollen, Els, Van Schaftingen, Emile, Jaeken, Jaak, Matthijs, Gert
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2001
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235268/
https://ncbi.nlm.nih.gov/pubmed/11156536
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