Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
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
Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.
Tramontana TF et al.
Jimd Reports, 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
Mutations of the glycine cleavage system genes possibly affect the negative symptoms of schizophrenia through metabolomic profile changes.
Yoshikawa A et al.
Psychiatry and Clinical Neurosciences, 2018
[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
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.
Khraim W et al.
Brain & Development, 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
Epilepsy in Inborn Errors of Metabolism With Therapeutic Options.
Campistol J
Seminars in Pediatric Neurology, 2016
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
Treatable newborn and infant seizures due to inborn errors of metabolism.
Campistol J et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2015
Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia.
Dulac O
Handbook of Clinical Neurology, 2013
Two novel missense mutations observed in nonketotic hyperglycinemia.
Yoon IA et al.
Pediatric Neurology, 2012
Prediction of long-term outcome in glycine encephalopathy: a clinical survey.
Hennermann JB et al.
Journal of Inherited Metabolic Disease, 2012
Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.
Brunel-Guitton C et al.
Molecular Genetics and Metabolism, 2011
A novel missense mutation in a neonate with nonketotic hyperglycinemia.
Meyer S et al.
Pediatric Neurology, 2010
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.
Kure S et al.
Annals of Neurology, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S et al.
Human Mutation, 2006
Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.
Korman SH et al.
Annals of Neurology, 2006
Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.
Nakai T et al.
The Embo Journal, 2005
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
Korman SH et al.
Annals of Neurology, 2004
Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A et al.
Molecular Genetics and Metabolism, 0