Format

Send to

Choose Destination
See comment in PubMed Commons below
Mol Genet Metab. 2000 Jun;70(2):116-21.

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

Author information

1
Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.

Abstract

The investigation of 14 unrelated patients with nonketotic hyperglycinemia led to the identification of mutations in 4 cases. Patients were initially categorized into probable P- or T-protein defects of the glycine cleavage enzyme complex, by the use of the glycine exchange assay without supplemental H-protein, then screened for mutations in the P-protein and T-protein genes, respectively.

PMID:
10873393
DOI:
10.1006/mgme.2000.3000
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center