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GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB

The congenital disorders of glycosylation (CDG) are a family of metabolic diseases in which glycosylation of proteins or lipids is deficient. GDP-mannose pyrophosphorylase B (GMPPB) mutations lead to CDG, characterized by neurological and muscular defects. However, the genotype-phenotype correlation...

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Detalles Bibliográficos
Autores principales:	Liu, Zhe, Wang, Yan, Yang, Fan, Yang, Qin, Mo, Xianming, Burstein, Ezra, Jia, Da, Cai, Xiao-tang, Tu, Yingfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Singapore 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607393/ https://www.ncbi.nlm.nih.gov/pubmed/35006422 http://dx.doi.org/10.1186/s43556-021-00027-2

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