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Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991. Both these patients...

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Publicado no:Arch Dis Child
Principais autores: Jaeken, J, Schachter, H, Carchon, H, De Cock, P, Coddeville, B, Spik, G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1994
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1029941/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7944531/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/adc.71.2.123
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