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
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
Serine and glycine physiology reversibly modulate retinal and peripheral nerve function.
Lim EW et al.
Cell Metabolism, 2024
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
Gibb J et al.
Journal of Medical Genetics, 2024
Natural history and outcome of nonketotic hyperglycinemia in China.
Zhou Z et al.
Frontiers in Neurology, 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
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 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
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
Bayrak H et al.
Metabolic Brain Disease, 2021
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.
Farris J et al.
Plos Genetics, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J et al.
Plos Computational Biology, 2020
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.
Lin Y et al.
Bmc Medical Genetics, 2018
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
[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
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA et al.
Annals of Neurology, 2015
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
Kure S
Brain & Development, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.
Nakai T et al.
The Embo Journal, 2005
Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia.
Sellner L et al.
Molecular Genetics and Metabolism, 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
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
Toone JR et al.
Molecular Genetics and Metabolism, 2001
[Early diagnosis of inborn metabolic diseases--genetic metabolic disorders which may cause mental deficiency. Studies in North Rhine-Westfalia].
Menne F et al.
Munchener Medizinische Wochenschrift (1950), 1972
Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A et al.
Molecular Genetics and Metabolism, 0