Associated Papers
Nonketotic Hyperglycinemia in Central and Appalachian Kentucky.
Reeves S et al.
Journal of Child Neurology, 2026
A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency.
Swanson MA et al.
Journal of Inherited Metabolic Disease, 2026
Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.
Ijaz A et al.
Orphanet Journal of Rare Diseases, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Swanson MA et al.
Journal of Inherited Metabolic Disease, 2024
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Swanson MA et al.
Biorxiv : the Preprint Server for Biology, 2024
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Shelkowitz E et al.
Orphanet Journal of Rare Diseases, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
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
[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].
Jiang TJ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
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
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
Bjoraker KJ et al.
The Journal of Pediatrics, 2016
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA et al.
Annals of Neurology, 2015
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
Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
Dinopoulos A et al.
Neurology, 2005
Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A et al.
Molecular Genetics and Metabolism, 0