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
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
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
23425511 (PubMed )
Supplement: bj4520027add.pdf
Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.
Furujo M et al.
Molecular Genetics and Metabolism, 2012
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.
Chamberlin ME et al.
American Journal of Human Genetics, 2000
Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.
Hazelwood S et al.
American Journal of Medical Genetics, 1998
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.
Chamberlin ME et al.
The Journal of Clinical Investigation, 1996
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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