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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Detalhes bibliográficos
Autor principal: Rymen, D. (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2014
Texto completo:http://hdl.handle.net/10400.16/1695
País:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/1695

Texto Completo

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

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