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
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 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
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J et al.
Plos Computational Biology, 2020
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Hynynen J et al.
Epilepsia, 2018
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
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.
Kose E et al.
Neurosciences (riyadh, Saudi Arabia), 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
Isolated neonatal seizures: when to suspect inborn errors of metabolism.
Ficicioglu C et al.
Pediatric Neurology, 2011
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
Kure S
Brain & Development, 2011
Neonatal nonketotic hyperglycinemia.
Bhamkar RP et al.
Indian Journal of Pediatrics, 2007
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
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
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
Boneh A et al.
Journal of Human Genetics, 2005
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
Korman SH et al.
Annals of Neurology, 2004
Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
Kure S et al.
The Journal of Pediatrics, 2004
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.
Matsubara Y et al.
Human Mutation, 2003
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
Database for the mutations of the Finnish disease heritage.
Sipilä K et al.
Human Mutation, 2002
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
Toone JR et al.
Human Mutation, 2001
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.
Kure S et al.
Journal of Human Genetics, 2001
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.
Kure S et al.
Prenatal Diagnosis, 1999
Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects.
Kure S et al.
The Japanese Journal of Human Genetics, 1997
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
Kure S et al.
The Journal of Clinical Investigation, 1992
Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A et al.
Molecular Genetics and Metabolism, 0