Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

Pediatr Neurol. 2018 Feb:79:e1. doi: 10.1016/j.pediatrneurol.2017.09.014. Epub 2017 Sep 28.

Authors

Curtis R Coughlin 2nd¹, Michael A Swanson¹, Elaine B Spector¹, Kathryn E Kronquist¹, Johan L K Van Hove²

Affiliations

¹ Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA.
² Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA.. Electronic address: Johan.Vanhove@ucdenver.edu.

PMID: 29239742
DOI: 10.1016/j.pediatrneurol.2017.09.014

No abstract available

Publication types

Letter
Comment

MeSH terms

Heterozygote
Humans
Hyperglycinemia, Nonketotic*
Mutation
Point Mutation