Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ventriculomegaly and hydrocephalus are associated with loss of function of glycine decarboxylase (Gldc) in mice and in humans suffering from Non-Ketotic Hyperglycinemia (NKH), a neurometabolic disorder characterised by accumulation of excess glycine.
|
31794432 |
2020 |
Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Nonketotic hyperglycinemia (NKH) is a devastating inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme.
|
30108280 |
2019 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
|
31349202 |
2019 |
Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Nonketotic hyperglycinemia (NKH) is a neuro-metabolic disorder caused by a deficiency in the glycine cleavage system (GCS) and glycine transporter 1 (GlyT1).
|
31230217 |
2019 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using CRISPR/Cas9, we knocked out the gldc gene and showed that gldc-/- fish recapitulate GE on a molecular level and present a motor phenotype reminiscent of severe GE symptoms.
|
30385710 |
2018 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The two variants of GLDC gene identified probably underlie the pathogenesis of non-ketotic hyperglycinemia in this family, and also enrich the mutational spectrum of GLDC gene.
|
29304759 |
2018 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
|
29300369 |
2018 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Possibly damaging variants were observed in SCZ: A203V, S801N in GLDC, near the atypical nonketotic hyperglycinemia causative mutations (A202V, A802V); G825D in GLDC, a potential neural tube defect causative mutation; and R253X in AMT.
|
29232014 |
2018 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.
|
28325525 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed.
|
28244183 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed.
|
28244183 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
|
28737873 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
|
27362913 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed.
|
28244183 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed.
|
28244183 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
|
27362913 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
|
27362913 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
|
27362913 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed.
|
28244183 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using HFUS, we imaged embryos carrying loss of function alleles of Gldc encoding glycine decarboxylase, a component of the glycine cleavage system in mitochondrial folate metabolism, which is known to be associated with cranial NTDs and NKH in humans.
|
28056489 |
2017 |
Nonketotic Hyperglycinemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
|
26749113 |
2016 |
Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH).
|
27481395 |
2016 |
Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Nonketotic Hyperglycinemia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
|
26179960 |
2015 |
Nonketotic Hyperglycinemia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
|
26179960 |
2015 |