Associated Papers
Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, Colombia.
Sinisterra-Diaz SE et al.
American Journal of Medical Genetics. Part A, 2025
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.
Farris J et al.
Plos Genetics, 2021
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J et al.
Plos Computational Biology, 2020
Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.
Dalin MG et al.
Nature Communications, 2017
29084941 (PubMed )
Supplement: 41467_2017_1178_MOESM4_ESM.xlsx › Somatic_mutations
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA et al.
Annals of Neurology, 2015
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.
Conter C et al.
Journal of Inherited Metabolic Disease, 2006
Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.
Nakai T et al.
The Embo Journal, 2005
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
Toone JR et al.
Molecular Genetics and Metabolism, 2002
Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A et al.
Molecular Genetics and Metabolism, 0
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