Associated Papers
Rethinking Newborn Screening: A Case of GALM Deficiency.
van Konijnenburg EMMH et al.
International Journal of Neonatal Screening, 2025
Two siblings with galactose mutarotase deficiency: Clinical differences.
Yazici H et al.
Jimd Reports, 2022
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
Iwasawa S et al.
Molecular Genetics and Metabolism, 2019
Select a paper to view details