Associated Papers
A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.
Ozler O et al.
Clinical Pediatrics, 2023
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
Chacon-Camacho OF et al.
Gene, 2014
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
Hennermann JB et al.
Journal of Inherited Metabolic Disease, 2011
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
Reich S et al.
Pediatric Research, 2002
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Hunter M et al.
Pediatric Research, 2002
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Hunter M et al.
Human Mutation, 2001
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