Associated Papers
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Scala M et al.
American Journal of Human Genetics, 2025
Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China.
Luo H et al.
Frontiers in Genetics, 2024
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Scala M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.
Zhao D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
36704196 (PubMed )
Supplement: DataSheet1.PDF
Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.
Zhou H et al.
Nature Communications, 2021
34521849 (PubMed )
Supplement: 41467_2021_25787_MOESM10_ESM.xlsx › Fig.4ef
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
[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia].
Sun Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
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
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.
Chadwick S et al.
Jimd Reports, 2014
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