Associated Papers
Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.
Akcan MB et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.
Ozler O et al.
Clinical Pediatrics, 2023
Association of Age-Related Cataract Risk with High Polygenetic Risk Scores Involved in Galactose-Related Metabolism and Dietary Interactions.
Jee D et al.
Lifestyle Genomics, 2022
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
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
P S et al.
Journal of Cellular Biochemistry, 2018
Cataract and early nystagmus due to galactokinase deficiency.
Bzduch V et al.
Journal of Inherited Metabolic Disease, 2017
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
Schulpis KH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Gillespie RL et al.
Human Heredity, 2014
Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
Singh R et al.
Current Eye Research, 2012
Galactokinase deficiency in a patient with congenital hyperinsulinism.
Bayarchimeg M et al.
Jimd Reports, 2012
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Janzen N et al.
Archives of Medical Research, 2011
Clinical and experimental advances in congenital and paediatric cataracts.
Churchill A et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
Hennermann JB et al.
Journal of Inherited Metabolic Disease, 2011
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
Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
Hartley A et al.
Journal of Molecular Biology, 2004
Molecular structure of galactokinase.
Thoden JB et al.
The Journal of Biological Chemistry, 2003
Functional analysis of disease-causing mutations in human galactokinase.
Timson DJ et al.
European Journal of Biochemistry, 2003
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].
Girós M et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2003
Clinical features of galactokinase deficiency: a review of the literature.
Bosch AM et al.
Journal of Inherited Metabolic Disease, 2002
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
Genetic studies of the Roma (Gypsies): a review.
Kalaydjieva L et al.
Bmc Medical Genetics, 2001
Novel mutations in 13 probands with galactokinase deficiency.
Kolosha V et al.
Human Mutation, 2000
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Kalaydjieva L et al.
American Journal of Human Genetics, 1999