MAN1B1 Deficiency: An Unexpected CDG-II

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient. Subsequently, 6 additional cases with MAN1B1-CDG...

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Main Authors: Rymen, Daisy, Peanne, Romain, Millón, María B., Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G., Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Format: Artigo
Language:Inglês
Published: Public Library of Science 2013
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3861123/
https://ncbi.nlm.nih.gov/pubmed/24348268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003989
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