Associated Papers
Rethinking Newborn Screening: A Case of GALM Deficiency.
van Konijnenburg EMMH et al.
International Journal of Neonatal Screening, 2025
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Comprehensive analysis of non-synonymous missense SNPs of human galactose mutarotase (GALM) gene: an integrated computational approach.
Murthy TPK et al.
Journal of Biomolecular Structure & Dynamics, 2023
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M et al.
Biomolecules, 2022
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.
Kikuchi A et al.
International Journal of Neonatal Screening, 2021
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC06
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Type IV galactosemia.
Timson DJ
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
Iwasawa S et al.
Molecular Genetics and Metabolism, 2019
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