Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
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Toone JR, Applegarth DA, Coulter-Mackie MB, James ER
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
Mol Genet Metab. 2000 Jun;70(2):116-21.
- PubMed ID
- 10873393 [ View in PubMed]
- 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.