Associated Papers
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
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
26179960 (PubMed )
Supplement: ANA-78-606-s001.pdf
A novel missense mutation in a neonate with nonketotic hyperglycinemia.
Meyer S et al.
Pediatric Neurology, 2010
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
Kanno J et al.
Journal of Medical Genetics, 2007
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S et al.
Human Mutation, 2006
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.
Conter C et al.
Journal of Inherited Metabolic Disease, 2006
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