MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the...

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Pubblicato in:	J Clin Invest
Autori principali:	Schenk, Barbara, Imbach, Timo, Frank, Christian G., Grubenmann, Claudia E., Raymond, Gerald V., Hurvitz, Haggit, Raas-Rotschild, Annick, Luder, Anthony S., Jaeken, Jaak, Berger, Eric G., Matthijs, Gert, Hennet, Thierry, Aebi, Markus
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 2001
Soggetti:	Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC200989/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11733564/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI13419
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