Associated Papers
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2025
39856690 (PubMed )
Supplement: 13023_2025_3546_MOESM3_ESM.pdf
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
Ma X et al.
Bmc Pediatrics, 2024
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Bottillo I et al.
Frontiers in Neuroscience, 2023
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
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