ALG9-CDG: New clinical case and review of the literature
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the...
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| Автори: | , , , , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Elsevier
2017-12-01
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| Серія: | Molecular Genetics and Metabolism Reports |
| Предмети: | |
| Онлайн доступ: | http://www.sciencedirect.com/science/article/pii/S2214426917300678 |
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