Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

Congenital disorders of glycosylation are a group of metabolic disorders with an expansive and highly variable clinical presentation caused by abnormal glycosylation of proteins and lipids. Dolichol kinase (DOLK) catalyzes the final step in biosynthesis of dolichol phosphate (Dol-P), which is the ol...

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Detalhes bibliográficos
Main Authors: Lieu, Michelle T, Ng, Bobby G, Rush, Jeffrey S, Wood, Tim, Basehore, Monica J, Hegde, Madhuri, Chang, Richard C, Abdenur, Jose E, Freeze, Hudson H, Wang, Raymond Y
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3909743/
https://ncbi.nlm.nih.gov/pubmed/24144945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.09.016
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