Last Posted: Apr 05, 2018
- Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Stroek Kevin et al. Molecular genetics and metabolism 2018 Mar
- Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Pasquali Marzia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct
- Newborn screening for galactosemia: a 30-year single center experience.
- Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
Singh Ramandeep, et al. Current eye research 2012 10 (10) 949-54
- Galactokinase deficiency
From NCATS Genetic and Rare Diseases Information Center
- The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Hunter Michael, et al. Pediatric research 2002 5 (5) 602-6
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Brugada Syndrome
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