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
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
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M et al.
Biomolecules, 2022
β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.
Wada Y et al.
Journal of Inherited Metabolic Disease, 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
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
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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