Associated Papers
Rethinking Newborn Screening: A Case of GALM Deficiency.
van Konijnenburg EMMH et al.
International Journal of Neonatal Screening, 2025
Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency.
Sánchez-Pintos P et al.
Bmc Pediatrics, 2024
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
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