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Congenital disorders of glycosylation

Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly g...

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Bibliografiske detaljer
Udgivet i:Ann Transl Med
Main Authors: Chang, Irene J., He, Miao, Lam, Christina T.
Format: Artigo
Sprog:Inglês
Udgivet: AME Publishing Company 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6331365/
https://ncbi.nlm.nih.gov/pubmed/30740408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2018.10.45
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