Associated Papers
Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.
Ijaz A et al.
Orphanet Journal of Rare Diseases, 2025
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
Genetic variants identified in novel candidate genes for anorexia nervosa and analysis of molecular pathways for diagnostic applications.
Donato K et al.
European Review for Medical and Pharmacological Sciences, 2023
Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center.
Genç Sel Ç et al.
Brain & Development, 2018
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.
Radha Rama Devi A et al.
Journal of Pediatric Genetics, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
Swanson MA et al.
Molecular Genetics and Metabolism, 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
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA et al.
Annals of Neurology, 2015
Using whole-exome sequencing to identify inherited causes of autism.
Yu TW et al.
Neuron, 2013
Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia.
Dulac O
Handbook of Clinical Neurology, 2013
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Toone JR et al.
Molecular Genetics and Metabolism, 2003
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).
Toone JR et al.
Molecular Genetics and Metabolism, 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.
Toone JR et al.
Human Mutation, 2001
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Kure S et al.
Human Genetics, 1998
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Nanao K et al.
Human Genetics, 1994
Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A et al.
Molecular Genetics and Metabolism, 0