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