Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
P S et al.
Journal of Cellular Biochemistry, 2018
Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2017
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Garcia DF et al.
Bmc Medical Genetics, 2016
Galactokinase deficiency in a patient with congenital hyperinsulinism.
Bayarchimeg M et al.
Jimd Reports, 2012
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
Park HD et al.
Molecular Genetics and Metabolism, 2007
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
Molecular characterization of galactokinase deficiency in Japanese patients.
Asada M et al.
Journal of Human Genetics, 1999
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