Condition: Nonketotic Hyperglycinemia


rs1126422 in AMT gene and Nonketotic Hyperglycinemia PMID 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PMID 16051266 2005 Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.

PMID 27362913 2017 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

PMID 26371980 2016 A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PMID 11286506 2001 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).

PMID 15272469 2004 Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update.

PMID 26179960 2015 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

PMID 9621520 1998 A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

PMID 9600239 1998 A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

PMID 8005589 1994 Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

PMID 16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

PMID 25231368 2014 Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.

PMID 23352163 2013 Using whole-exome sequencing to identify inherited causes of autism.

PMID 12948742 2003 Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

PMID 27164344 2016 Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report.

PMID 22261077 2012 Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

PMID 11139253 2001 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.

PMID 29300369 2018 Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

rs121964983 in AMT;NICN1 gene and Nonketotic Hyperglycinemia PMID 9621520 1998 A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

PMID 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PMID 9600239 1998 Genotype analyses of 26 family members confirmed that the homozygous H42R mutation was completely associated with the onset of NKH.

PMID 11286506 2001 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).

PMID 16051266 2005 Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.

PMID 26371980 2016 A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PMID 8005589 1994 Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

PMID 16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

PMID 26179960 2015 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

rs1163356968 in GLDC gene and Nonketotic Hyperglycinemia PMID 27362913 2017 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

PMID 22633639 2012 Two novel missense mutations observed in nonketotic hyperglycinemia.

PMID 26179960 2015 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

PMID 28737873 2017 Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.

PMID 1996985 1991 Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.

PMID 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PMID 11592811 2001 Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.

PMID 11286506 2001 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).

PMID 1634607 1992 Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

PMID 15791207 2005 Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.

PMID 17361008 2007 Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

PMID 12126939 2002 Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

PMID 15670722 2005 Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia.

PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PMID 15824356 2005 Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.

PMID 16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

PMID 15272469 2004 Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update.

PMID 26749113 2016 Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.

PMID 16601880 2006 Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 20691948 2010 Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy.

PMID 24407464 2014 Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

PMID 20933183 2010 A novel missense mutation in a neonate with nonketotic hyperglycinemia.

PMID 22171071 2012 Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

PMID 15192636 2004 Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.

PMID 15851735 2005 Homozygosity for c.2607C>A was also identified in an unrelated but haplotypically identical patient with an unusually favorable outcome despite severe neonatal-onset GE.

rs121964982 in NICN1;AMT gene and Nonketotic Hyperglycinemia PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PMID 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PMID 8005589 1994 Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

PMID 27362913 2017 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

PMID 26371980 2016 A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

PMID 16051266 2005 Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.

PMID 11286506 2001 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).

PMID 9600239 1998 A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

PMID 9621520 1998 A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

PMID 15272469 2004 Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update.

PMID 16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.