Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients
2010; Springer Science+Business Media; Volume: 33; Issue: 2 Linguagem: Inglês
10.1007/s10545-010-9045-2
ISSN1573-2665
AutoresKatrin Õunap, Kairit Joost, Triinu Temberg, Külliki Krabbi, Neeme Tõnisson,
Tópico(s)Amino Acid Enzymes and Metabolism
ResumoJournal of Inherited Metabolic DiseaseVolume 33, Issue 2 p. 175-176 Letter to the Editor Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients Katrin Õunap, Corresponding Author Katrin Õunap [email protected] Department of Genetics, United Laboratories, Tartu University Hospital, 2 Puusepa Street, Tartu, 51014 Estonia Department of Paediatrics, University of Tartu, Tartu, Estonia Telephone: +372-7-319491, Fax: +372-7-319484, [email protected]Search for more papers by this authorKairit Joost, Kairit Joost The Centre of Excellence for Translational Medicine, University of Tartu, Tartu, Estonia Tallinn Children's Hospital, Tallinn, EstoniaSearch for more papers by this authorTriinu Temberg, Triinu Temberg Asper Biotech, Tartu, EstoniaSearch for more papers by this authorKülliki Krabbi, Külliki Krabbi Central Laboratory of Health Protection Inspectorate, Tallinn, EstoniaSearch for more papers by this authorNeeme Tõnisson, Neeme Tõnisson Department of Genetics, United Laboratories, Tartu University Hospital, 2 Puusepa Street, Tartu, 51014 Estonia Institute of Molecular and Cell Biology, University of Tartu, Tartu, EstoniaSearch for more papers by this author Katrin Õunap, Corresponding Author Katrin Õunap [email protected] Department of Genetics, United Laboratories, Tartu University Hospital, 2 Puusepa Street, Tartu, 51014 Estonia Department of Paediatrics, University of Tartu, Tartu, Estonia Telephone: +372-7-319491, Fax: +372-7-319484, [email protected]Search for more papers by this authorKairit Joost, Kairit Joost The Centre of Excellence for Translational Medicine, University of Tartu, Tartu, Estonia Tallinn Children's Hospital, Tallinn, EstoniaSearch for more papers by this authorTriinu Temberg, Triinu Temberg Asper Biotech, Tartu, EstoniaSearch for more papers by this authorKülliki Krabbi, Külliki Krabbi Central Laboratory of Health Protection Inspectorate, Tallinn, EstoniaSearch for more papers by this authorNeeme Tõnisson, Neeme Tõnisson Department of Genetics, United Laboratories, Tartu University Hospital, 2 Puusepa Street, Tartu, 51014 Estonia Institute of Molecular and Cell Biology, University of Tartu, Tartu, EstoniaSearch for more papers by this author First published: 12 February 2010 https://doi.org/10.1007/s10545-010-9045-2Citations: 3 Communicated by: Rodney Pollitt Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References Bosch AM (2006) Classical galactosaemia revisited. J Inherit Metab Dis, 29: 516–525, . Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R (2007) Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum Mutat, 28: 939–943, . Loeber JG (2007) Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis, 30: 430–438, . Citing Literature Volume33, Issue2April 2010Pages 175-176 ReferencesRelatedInformation
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