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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Detalles Bibliográficos
Autores principales: Davis, Kellie, Webster, Duncan, Smith, Chris, Jackson, Sheryl, Sinasac, David, Seargeant, Lorne, Wei, Xing-Chang, Ferreira, Patrick, Midgley, Julian, Foster, Yolanda, Li, Xueli, He, Miao, Al-Hertani, Walla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596360/
https://www.ncbi.nlm.nih.gov/pubmed/28932688
http://dx.doi.org/10.1016/j.ymgmr.2017.08.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596360/
https://www.ncbi.nlm.nih.gov/pubmed/28932688
http://dx.doi.org/10.1016/j.ymgmr.2017.08.004

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