Associated Papers
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
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
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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