Associated Papers
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.
Leoncini S et al.
Children (basel, Switzerland), 2023
37761403 (PubMed )
Supplement: children-10-01442-s001.zip › Supplementary_Table_S2.pdf
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S4__MITNGS_S4_
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
Bayrak H et al.
Metabolic Brain Disease, 2021
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin.
Scimone C et al.
Journal of Clinical Pharmacy and Therapeutics, 2021
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J et al.
Plos Computational Biology, 2020
PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.
Alkhater RA et al.
Annals of Clinical and Translational Neurology, 2018
30564627 (PubMed )
Supplement: ACN3-5-1617-s002.xlsx › SNVs
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
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
A comprehensive global genotype-phenotype database for rare diseases.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2017
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM3_ESM.pdf
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.
Conter C et al.
Journal of Inherited Metabolic Disease, 2006
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