Work

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

Year: 2018

Type: article

Study design: Case Report

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2018.10.021

Authors: Bobby G. Ng, Jill A. Rosenfeld, Lisa Emrick, Mahim Jain, Lindsay C. Burrage, Brendan Lee, William J. Craigen, David R. Bearden, Brett H. Graham, Hudson H. Freeze

Institutions: Sanford Burnham Prebys Medical Discovery Institute, Baylor College of Medicine, Johns Hopkins University, Johns Hopkins Medicine, University of Rochester Medicine, University of Rochester, Indiana University Indianapolis, Indiana University School of Medicine

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Burroughs Wellcome Fund, National Institutes of Health, National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Common Fund

Awards: G2609925829, G2869295808, G3199122987, G4444814008, G5508335201, G9000087795

OpenAlex ID: W2902657099

FWCI: 2.383

Cites: 39

Cited by: 32

Related to: 10