Associated Papers
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 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
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
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
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
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.
Nashabat M et al.
Therapeutics and Clinical Risk Management, 2018
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
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
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
Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.
Furujo M et al.
Molecular Genetics and Metabolism, 2012
S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.
Furujo M et al.
Molecular Genetics and Metabolism, 2012
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Fernández-Irigoyen J et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details