Associated Papers
Rethinking Newborn Screening: A Case of GALM Deficiency.
van Konijnenburg EMMH et al.
International Journal of Neonatal Screening, 2025
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
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