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• W263084846 abstract "Journal of Inherited Metabolic DiseaseVolume 22, Issue 3 p. 327-329 Article Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase Y. S. Shin, Corresponding Author Y. S. Shin [email protected] University Children's Hospital of Munich, Munich, Germany[email protected]Search for more papers by this authorJ. Zschocke, J. Zschocke University Children's Hospital of Marburg, Marburg, GermanySearch for more papers by this authorA. M. Das, A. M. Das University Children's Hospital of Hamburg, Hamburg, GermanySearch for more papers by this authorT. Podskarbi, T. Podskarbi Laboratory for Metabolism and Genetics, Munich, GermanySearch for more papers by this author Y. S. Shin, Corresponding Author Y. S. Shin [email protected] University Children's Hospital of Munich, Munich, Germany[email protected]Search for more papers by this authorJ. Zschocke, J. Zschocke University Children's Hospital of Marburg, Marburg, GermanySearch for more papers by this authorA. M. Das, A. M. Das University Children's Hospital of Hamburg, Hamburg, GermanySearch for more papers by this authorT. Podskarbi, T. Podskarbi Laboratory for Metabolism and Genetics, Munich, GermanySearch for more papers by this author First published: 01 May 1999 https://doi.org/10.1023/A:1005516523196Citations: 13AboutPDF 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 1Böhles H, Wenzel D, Shin YS (1986) Progressive cerebellar and extrapyramidal motor disturbances in galactosemic twin. Eur J Pediatr, 145: 413–417. 2Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ (1997) Molecular basis for Duarte and Los Angeles variant galactosemia. Am J Hum Genet, 60: 366–372. 3Ng WG, Xu YK, Kaufmann FR (1994) Biochemical and molecular studies of 132 patients with galactosemia. Hum Genet, 94: 359–363. 4Podskarbi T, Shin YS (1996) Neonatal screening and differential diagnosis of galactosemia.. In: H Levy, RJ Hermos, GF Grady, eds. Proceedings of the 3rd International Congress on Neonatal Screening, Boston: 317–318. 5Podskarbi T, Reichardt JKV, Shin YS (1994) Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany. J Inher Metab Dis, 17: 149–150. 6Podskarbi T, Kohlmetz T, Gathof BS, Kleinlein B, Shin YS (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. J Inher Metab Dis, 19: 638–644. 7Schuster V, Podskarbi T, Gresser U, Ottenmeyer H, Haubner M, Shin YS (1998) Clinical, biochemical and molecular studies of a Turkish family with three siblings with classic galactosemia: Simultaneous occurrence of various mutations and polymorphisms in the GALT gene. J Mol Med, 76: 715–719. 8Schweitzer S, Shin YS, Jacobs C et al (1993) Long-term outcome in 134 patients with galactosemia. Eur J Pediatr, 152: 36–43. 9Segal S, Scriver CR, Beaudet AL, Sly WS, Valle D (1989) Disorders of galactose metabolism. In: The Metabolic Basis of Inherited Disease, 6th edn.. New York: McGraw-Hill, 453–480. 10Shin YS, Niedermeier HP, Endres W (1987) Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase: developmental aspect of UDP-galactose pyrophosphorylase. Clin Chim Acta, 166: 27–35. 11Shin YS, Gathof BS, Podskarbi T et al (1996) Three mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosemia. Eur J Pediatr, 155: 393–397. 12Shin YS, Koch HG, Köhler M, Hoffmann G, Patsoura A, Podskarbi T (1998) Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40–50% of normal red cells. J Inher Metab Dis, 21: 232–235. 13Steen C, Podskarbi T, Shin YS, Kohlschütter A (1997) A novel mutation in the GALT gene in siblings with a mild variant form of galactosemia. In: Proceedings of the 7th International Congress on Inborn Errors of Metabolism, Vienna: 96, (Abstract). 14Waggoner DD, Buist NRM, Donnell GN (1990) Long-term prognosis in galactosemia: results of a survey of 350 cases. Inher Metab Dis, 13: 802–818. Citing Literature Volume22, Issue3May 1999Pages 327-329 ReferencesRelatedInformation" @default.
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