Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients

@article{unap2010ClassicalGI,
  title={Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients},
  author={Katrin {\~O}unap and Kairit Joost and Triinu Temberg and K{\"u}lliki Krabbi and Neeme T{\~o}nisson},
  journal={Journal of Inherited Metabolic Disease},
  year={2010},
  volume={33},
  pages={175-176}
}
Classical galactosemia (McKusick 230400) is an autosomal recessive genetic disease caused by deficiency of galactose1-phosphate uridyltransferase (GALT) activity. The gene that encodes GALT is located on chromosome 9p13, and more than 230 mutations have been identified so far (Calderon et al 2007). The purpose of our study was to evaluate the effectiveness of selective screening for GALT deficiency in Estonia to evaluate the genotype and phenotype of our patients and to establish the live-birth… CONTINUE READING
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