Galactosemia
Definition:
References:
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[1]. Annet M Bosch, et al. Classical galactosaemia revisited. J Inherit Metab Dis. 2006 Aug;29(4):516-25. [Content Brief]
[2]. D Stambolian, et al. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet. 1995 Jul;10(3):307-12. [Content Brief]
[3]. Judith L Fridovich-Keil, et al. Galactosemia: the good, the bad, and the unknown. J Cell Physiol. 2006 Dec;209(3):701-5. [Content Brief]
[4]. T M Wohlers, et al. Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. Am J Hum Genet. 1999 Feb;64(2):462-70. [Content Brief]
[5]. Yoichi Wada, et al. Biallelic GALM pathogenic variants cause a novel type of galactosemia. Genet Med. 2019 Jun;21(6):1286-1294. [Content Brief]
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