Associated Papers
Genomic sequencing enhances metabolic newborn screening in Thailand.
Kuptanon C et al.
Clinical Biochemistry, 2026
Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.
Huang XW et al.
World Journal of Pediatrics : Wjp, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report.
Mu J et al.
Medicine, 2024
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
Ma X et al.
Bmc Pediatrics, 2024
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.
Zhang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.
Gonçalves MM et al.
International Journal of Neonatal Screening, 2024
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.
Hao L et al.
Molecular Genetics and Metabolism, 2024
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 2024
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns.
Li YY et al.
European Journal of Medical Genetics, 2023
Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MS.
Gonçalves MM et al.
Endocrine, Metabolic & Immune Disorders Drug Targets, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.
Tong F et al.
Frontiers in Cell and Developmental Biology, 2022
Polar Interactions at the Dimer-Dimer Interface of Methionine Adenosyltransferase MAT I Control Tetramerization.
Sánchez-Pérez GF et al.
International Journal of Molecular Sciences, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.
Bannick A et al.
European Journal of Medical Genetics, 2020
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN et al.
Nature Medicine, 2020
Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.
Panmanee J et al.
Acta Crystallographica. Section D, Structural Biology, 2020
[Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency].
Lin C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.
Zhang Z et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Hypermethioninemia in Campania: Results from 10 years of newborn screening.
Villani GRD et al.
Molecular Genetics and Metabolism Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Control and regulation of S-Adenosylmethionine biosynthesis by the regulatory β subunit and quinolone-based compounds.
Panmanee J et al.
The Febs Journal, 2019
Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract.
Kido J et al.
Brain & Development, 2019
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W et al.
Bmc Medical Genetics, 2019
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Sharer JD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Dagar V et al.
Clinical Epigenetics, 2018
Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.
Yang CJ et al.
Bmc Pediatrics, 2018
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.
Nashabat M et al.
Therapeutics and Clinical Risk Management, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.
Muriello MJ et al.
Molecular Genetics and Metabolism Reports, 2017
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.
Qian J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Barić I et al.
Journal of Inherited Metabolic Disease, 2017
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
Kim YM et al.
Molecular Medicine (cambridge, Mass.), 2016
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH et al.
Orphanet Journal of Rare Diseases, 2015
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.
Marcão A et al.
Jimd Reports, 2015
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.
Chadwick S et al.
Jimd Reports, 2014
Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.
Nagao M et al.
Molecular Genetics and Metabolism, 2013