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Clinical features of galactokinase deficiency:A review of the literature

  • Published:2003-02 Issue:8 Volume:25 Page:629-634
  • ISSN:0141-8955
  • Container-title:Journal of Inherited Metabolic Disease
  • language:en
  • Short-container-title:J Inherit Metab Dis

Author:

Bosch A. M.12,Bakker H. D.1,van Gennip A. H.3,van Kempen J. V.4,Wanders R. J. A.3,Wijburg F. A.1

Affiliation:

1. ; Emma Children's Hospital, Academic Medical Centre; University of Amsterdam; The Netherlands

2. ; Gooi-Noord Hospital; Blaricum

3. ; Laboratory of Genetic Metabolic Diseases, Academic Medical Centre; University of Amsterdam; The Netherlands

4. Dutch Society for Galactosemia; The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. A mouse model of galactose-induced cataracts;Ai;Hum Mol Genet,2000

2. Galactokinase deficiency as a cause of cataracts;Beutler;N Engl J Med,1973

3. Recurrent sepsis with deficiencies of C2 and galactokinase;Borzy;Am J Dis Child,1984

4. Cataracte par deficit en galactokinase chez un premature;Colin;Arch Fr Pediatr,1976

5. Hereditary galactokinase deficiency;Cook;Arch Dis Child,1971

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1. Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights;Molecular Genetics and Metabolism Reports;2024-03

2. Metabolic diseases;Translational Glycobiology in Human Health and Disease;2024

3. Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism;Avery's Diseases of the Newborn;2024

4. Classical Hereditary galactosemia: findings in patients and animal models;Metabolic Brain Disease;2023-09-13

5. The Importance of Neonatal Screening for Galactosemia;Nutrients;2022-12-20
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