Associated Papers
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
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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