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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Bibliographic Details
Main Author: Rymen, D. (author)
Other Authors: Peanne, R. (author), Millón, M. (author), Race, V. (author), Sturiale, L. (author), Garozzo, D. (author), Mills, P. (author), Clayton, P. (author), Asteggiano, C. (author), Quelhas, D. (author), Cansu, A. (author), Martins, E. (author), Nassogne, M. (author), Gonc¸alves-Rocha, M. (author), Topaloglu, H. (author), Jaeken, J. (author), Foulquier, F. (author), Matthijs, G. (author)
Format: article
Language:eng
Published: 2014
Online Access:http://hdl.handle.net/10400.16/1695
Country:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/1695

Internet

http://hdl.handle.net/10400.16/1695

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