Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
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
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
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.
Muriello MJ et al.
Molecular Genetics and Metabolism Reports, 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
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.
Chadwick S et al.
Jimd Reports, 2014
Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits.
Shafqat N et al.
The Biochemical Journal, 2013
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Fernández-Irigoyen J et al.
Molecular Genetics and Metabolism, 0