ALG9-CDG: New clinical case and review of the literature

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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Bibliographic Details
Main Authors: Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Format: Article
Language:English
Published: Elsevier 2017-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Congenital disorders of glycosylation
ALG9-CDG
CDG-IL
ALG9
Transferrin isoelectrofocusing type 1 pattern
Lethal skeletal dysplasia
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300678

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http://www.sciencedirect.com/science/article/pii/S2214426917300678

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