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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. (2020)

First Author: Ng BG

Attributed to: Importance of N-glycosylation at the Neuromuscular Junction funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1002/jimd.12290

PubMed Identifier: 32681751

Publication URI: http://europepmc.org/abstract/MED/32681751

Type: Journal Article/Review

Volume: 43

Parent Publication: Journal of inherited metabolic disease

Issue: 6

ISSN: 0141-8955