Article
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
BMC medical genetics - 12 May 2016
Garcia Daniel F, Camelo José S, Molfetta Greice A, Turcato Marlene, Souza Carolina F M, Porta Gilda, Steiner Carlos E, Silva Wilson A
Abstract excerpt
BACKGROUND: Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications ranging from neonatal jaundice and liver failure to late complications, such as motor and reproductive dysfunctions....
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