Associated Papers
Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.
Ijaz A et al.
Orphanet Journal of Rare Diseases, 2025
Radiological and Genetic Evaluation in Hypotonic Infants.
Gur S et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2023
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
Atli EI et al.
Internal Medicine Journal, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia.
Silverstein S et al.
Metabolic Brain Disease, 2019
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
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I et al.
Human Mutation, 2017
Two novel missense mutations in nonketotic hyperglycinemia.
Yilmaz BS et al.
Journal of Child Neurology, 2015
Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia.
Dulac O
Handbook of Clinical Neurology, 2013
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
Okamura-Ikeda K et al.
Journal of Molecular Biology, 2005
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
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
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