A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

Individuals with congenital disorders of glycosylation (CDG) have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to C...

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Detaylı Bibliyografya
Asıl Yazarlar: Chu, Jaime, Mir, Alexander, Gao, Ningguo, Rosa, Sabrina, Monson, Christopher, Sharma, Vandana, Steet, Richard, Freeze, Hudson H., Lehrman, Mark A., Sadler, Kirsten C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Company of Biologists Limited 2013
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3529342/
https://ncbi.nlm.nih.gov/pubmed/22899857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.010116
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