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Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndromes, lead to diseases with variable clinical pictures. We report the delineation of a novel type of CDG identified in 2 children presenting with severe developmental delay, seizures, and dysmorph...

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Wedi'i Gadw mewn:
Cyhoeddwyd yn:J Clin Invest
Prif Awduron: Imbach, Timo, Schenk, Barbara, Schollen, Els, Burda, Patricie, Stutz, Andreas, Grünewald, Stephanie, Bailie, Nicola M., King, Mary D., Jaeken, Jaak, Matthijs, Gert, Berger, Eric G., Aebi, Markus, Hennet, Thierry
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2000
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC377434/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10642602/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI8691
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