Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients.
Côrtes L et al.
Genes, 2023
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
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
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
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
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
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