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Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping

Congenital disorders of glycosylation (CDG) are an expanding group of genetic diseases affecting protein and lipid glycosylation. These disorders have a variable presentation and are individually rare. DPAGT1-CDG is a protein N-glycosylation disorder with epilepsy, development delay, severe hypotoni...

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Detalhes bibliográficos
Main Authors: Imtiaz, Faiqa, Al-Mostafa, Abeer, Al-Hassnan, Zuhair N.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509848/
https://ncbi.nlm.nih.gov/pubmed/23430862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_57
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