- Galactosemia
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Yang SH
- KMID: 2168071
- Hanyang Med Rev.
- 2005 Aug;25(3):37-41.
Galactosemia, a term that denotes the presence of galactose in the blood, is the name of rare inborn error of galactose metabolism due to a deficiency of the enzyme galactokinase... -
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- Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote
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Yang HR, Kim JE, Ko JS, Song JH, Park SS, Seo JK
- KMID: 1601082
- Korean J Pediatr Gastroenterol Nutr.
- 2003 Mar;6(1):84-89.
Galactosemia is a rare autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Classic galactosemia (G/G) is due to severe GALT deficiency in the presence of... -
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- A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene
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Cheon CK, Cho MS, Ko JM, Kim GH, Yoo HW
- KMID: 2184458
- J Genet Med.
- 2008 Dec;5(2):131-135.
Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can... -
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