REFERENCES
- Park HD, Bang YL, Park KU et al. Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. Mol Genet Metab 2007;91:234–238.
- Gitzelmann R. Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet 1965;2:670–671.
- Asada M, Okano Y, Imamura T et al. Molecular characterization of galactokinase deficiency in Japanese patients. J Hum Genet 1999;44:377–382.
- Holton JB, Walter JH, Tyfield LA. Galactosemia. In: Scriver CR, Beaudet AI, Sly WS, Valle D. eds. Childs B, Kinzler KW, Vogelstein B, assoc eds. The Metabolic and Molecular Basis of Inherited Disease. 8th edn. New York: McGraw-Hill; 2001: 1553–1583.
- Bergsma DJ, Ai Y, Skach WR et al. Fine structure of the human galactokinase GALK1 gene. Genome Res 1996;6:980–985.
- Thoden JB, Timson DJ, Reece RJ et al. Molecular structure of human galactokinase: implications for type II galactosemia. J Biol Chem 2005;280:9662–9670.
- Hunter M, Heyer E, Austerlitz F et al. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr Res 2002;51:602–606.
- Stambolian D, Scarpino-Myers V, Eagle RC, Jr.et al. Cataracts in patients heterozygous for galactokinase deficiency. Invest Ophthalmol Vis Sci 1986;27:429–433.
- Gitzelmann R. Hereditary galactokinase deficiency: A newly recognized cause of juvenile cataracts. Pediatr Res 1967; 1: 14–23.
- Lowry OH, Rosebrough NJ, Farr AL et al. Protein measurement with the Folin phenol reagent. J Biol Chem 1951;193:265–275.
- Kolosha V, Anoia E, de Cespedes C et al. Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat 2000;15:447–453.
- Sharma N, Singh M, Kaur G et al. Identification and characterization of CFTR gene mutations in Indian CF patients. Ann Hum Genet 2009;73:26–33.
- Hunter M, Angelicheva D, Levy HL et al. Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Hum Mutat 2001;17:77–78.
- Timson DJ, Reece RJ. Functional analysis of disease-causing mutations in human galactokinase. Eur J Biochem 2003;270:1767–1774.
- Kalaydjieva L, Perez-Lezaun A, Angelicheva D et al. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet 1999;65:1299–1307.
- Okano Y, Asada M, Fujimoto A et al. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, “Osaka,” in Asians. Am J Hum Genet 2001;68:1036–1042.
- Bosch AM, Bakker HD, van Gennip AH et al. Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis 2002;25:629–634.