Associated Papers
Rethinking Newborn Screening: A Case of GALM Deficiency.
van Konijnenburg EMMH et al.
International Journal of Neonatal Screening, 2025
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.
Chen HA et al.
Molecular Genetics and Metabolism Reports, 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
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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