Associated Papers
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
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
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
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
S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.
Furujo M et al.
Molecular Genetics and Metabolism, 2012
Spectrum of hypermethioninemia in neonatal screening.
Chien YH et al.
Early Human Development, 2005
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency.
Tada H et al.
Ajnr. American Journal of Neuroradiology, 0
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Fernández-Irigoyen J et al.
Molecular Genetics and Metabolism, 0
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