- A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia
-
Lim RK, Byun SY, Park SS, Kim YD
- KMID: 2144479
- J Korean Soc Neonatol.
- 2010 May;17(1):136-140.
Galactosemia is a group of inherited enzyme deficiencies characterized by increase in the blood galactose levels. This condition may be associated with deficiencies of galactose-1-phosphate uridyl transferase, galactokinase, or uridine... -
- CITED
-
- Close
- SHARE
-
- Close
