Associated Papers
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.
Wen W et al.
Journal of Medical Genetics, 2024
38724173 (PubMed )
Supplement: jmg-2023-109667supp006.xlsx › Sheet1
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
P S et al.
Journal of Cellular Biochemistry, 2018
Molecular structure of human galactokinase: implications for type II galactosemia.
Thoden JB et al.
The Journal of Biological Chemistry, 2005
Galactokinase: structure, function and role in type II galactosemia.
Holden HM et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Sangiuolo F et al.
Human Mutation, 2004
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