טוען...
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...
שמור ב:
| הוצא לאור ב: | Arch Dis Child |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BMJ Publishing Group
1994
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| נושאים: | |
| גישה מקוונת: | 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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