Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

[1]  M. Feki,et al.  Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients , 2020, Neuropediatrics.

[2]  R. Boustany,et al.  Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review , 2019, Neuropediatrics.

[3]  N. Stence,et al.  Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype , 2019, Journal of inherited metabolic disease.

[4]  Ç. Kasapkara,et al.  Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center , 2018, Brain and Development.

[5]  S. Balasubramaniam,et al.  Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report , 2018, European Journal of Clinical Nutrition.

[6]  S. Mohammad,et al.  Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging , 2017, Neuroradiology.

[7]  C. Pérez-Cerdá,et al.  Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease , 2017, Human mutation.

[8]  G. Matthijs,et al.  The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT , 2016, Genetics in Medicine.

[9]  F. Lo,et al.  Nonketotic Hyperglycinemia of Infants in Taiwan. , 2016, Pediatrics and neonatology.

[10]  J. Hennermann,et al.  Nonketotic Hyperglycinemia (Glycine Encephalopathy ) and Lipoate Deficiency Disorders , 2016 .

[11]  H. Szerlong,et al.  Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia , 2015, Annals of neurology.

[12]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[13]  S. Zakaria,et al.  Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy , 2014, Journal of Human Genetics.

[14]  Malene B. Rasmussen,et al.  Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. , 2014, Brain : a journal of neurology.

[15]  L. Diogo,et al.  Nonketotic Hyperglycinemia , 2013, Journal of child neurology.

[16]  F. Vigevano,et al.  Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. , 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[17]  Ji Hun Shin,et al.  Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia , 2012, Korean journal of pediatrics.

[18]  G. Scharer,et al.  Prediction of long-term outcome in glycine encephalopathy: a clinical survey , 2012, Journal of Inherited Metabolic Disease.

[19]  M. Griebel,et al.  Pitfalls in Measuring Cerebrospinal Fluid Glycine Levels in Infants With Encephalopathy , 2011, Journal of child neurology.

[20]  Y. Matsubara,et al.  Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia , 2006, Journal of Medical Genetics.

[21]  T. Degrauw,et al.  Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia , 2006, Human mutation.

[22]  M. Rolland,et al.  Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy , 2006, Journal of Inherited Metabolic Disease.

[23]  D. Applegarth,et al.  Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations , 2006, American journal of medical genetics. Part A.

[24]  Y. Matsubara,et al.  Atypical variants of nonketotic hyperglycinemia. , 2005, Molecular genetics and metabolism.

[25]  J. Jaeken,et al.  Benzoate treatment and the glycine index in nonketotic hyperglycinaemia , 2005, Journal of Inherited Metabolic Disease.

[26]  A. Hamosh,et al.  Natural history of nonketotic hyperglycinemia in 65 patients , 2004, Neurology.

[27]  A. Al-Asmari,et al.  Nonketotic hyperglycinemia in Suleimaniah Children’s Hospital, Riyadh, Saudi Arabia , 2004, Annals of Saudi medicine.

[28]  D. Applegarth,et al.  Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update , 2004, Journal of Inherited Metabolic Disease.

[29]  E. Wiltshire,et al.  Treatment of late-onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoate , 2000, Journal of Inherited Metabolic Disease.

[30]  E. R. Baumgartner,et al.  Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia , 1994, Human Genetics.

[31]  S. Korman,et al.  Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). , 2002, Developmental medicine and child neurology.

[32]  M. Coulter-Mackie,et al.  Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. , 2000, Molecular genetics and metabolism.

[33]  P. Demaerel,et al.  Acute hydrocephalus in nonketotic hyperglycinemia , 2000, Neurology.

[34]  D. Applegarth,et al.  Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996 , 2000, Pediatrics.

[35]  H. Mandel,et al.  Prenatal diagnosis of non‐ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli–Arab mutations , 1999, Prenatal diagnosis.

[36]  D. Millington,et al.  Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia. , 1995, American journal of medical genetics.

[37]  K. Narisawa,et al.  Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. , 1992, The Journal of clinical investigation.

[38]  W. Nyhan,et al.  The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia. , 1986, American journal of diseases of children.

[39]  J. Hughes,et al.  Nonketotic hyperglycinemia: treatment with diazepam--a competitor for glycine receptors. , 1983, Pediatrics.

[40]  L. Wendt,et al.  Nonketotic hyperglycinemia A genetic study of 13 Finnish families , 1979, Clinical genetics.

[41]  K. Narisawa,et al.  Hyperglycinemia: a defect in glycine cleavage reaction. , 1969, The Tohoku journal of experimental medicine.