Associated Papers
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
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
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
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 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
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
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
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Spectrum of hypermethioninemia in neonatal screening.
Chien YH et al.
Early Human Development, 2005
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.
Chamberlin ME et al.
American Journal of Human Genetics, 2000
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.
Chamberlin ME et al.
The Journal of Clinical Investigation, 1996
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.
Ubagai T et al.
The Journal of Clinical Investigation, 1995
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Fernández-Irigoyen J et al.
Molecular Genetics and Metabolism, 0