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01-04-2010 | Letter to the Editor

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

Authors: Katrin Õunap, Kairit Joost, Triinu Temberg, Külliki Krabbi, Neeme Tõnisson

Published in: Journal of Inherited Metabolic Disease | Issue 2/2010

Excerpt

Classical galactosemia (McKusick 230400) is an autosomal recessive genetic disease caused by deficiency of galactose-1-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). …

Bosch AM (2006) Classical galactosaemia revisited. J Inherit Metab Dis 29:516–525CrossRefPubMed

Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R (2007) Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum Mutat 28:939–943CrossRefPubMed

Loeber JG (2007) Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis 30:430–438CrossRefPubMed

Title: Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients
Authors: Katrin Õunap
Kairit Joost
Triinu Temberg
Külliki Krabbi
Neeme Tõnisson
Publication date: 01-04-2010
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 2/2010
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-010-9045-2

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