REFERENCES
Greber-Platzer S, Guldberg P, Scheibenreiter S, et al (1997) Molecular heterogeneity of classical and Duarte galactosaemia: mutation analysis by denaturing gradient gel electrophoresis. Hum Mutat 10: 49–57.
Hirokawa H, Okano Y, Ashino J, Imamura T, Suyama I, Isshiki G (1997) Molecular characterization of galactosaemia mutations (type I) in Japanese. Proc 7th Int Congr Inborn Error Metab, Vienna, 201 (Abstract).
Kozak L, Francova H, Blazkova M, et al (1997) Mutation analysis of GALT gene in Czech and Slovak galactosaemia patients. Proc 7th Int Congr Inborn Error Metab, Vienna, 96 (Abstract).
Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ (1997) Molecular basis for Duarte and Los Angeles variant galactosaemia. Am J Hum Genet 60: 366–372.
Podskarbi T, Shin YS (1996) Neonatal screening and di. erential diagnosis of galactosaemia. In Levy H, Hermos, RJ, Grady GF, eds. Proc 3rd Int Congr Neonat Screen, Boston, 317–318.
Podskarbi 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.
Shin YS, Niedermeier HP, Endres J et al (1987) Agarose gel isoelectrofocusing of UDPgalactose pyrophosphorylase and galactose-1–phosphate uridyltransferase: developmental aspect of UDP-galactose pyrophosphorylase. Clin Chim Acta 166: 27–35.
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Shin, Y.S., Koch, H.G., Köhler, M. et al. 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 in red cells. J Inherit Metab Dis 21, 232–235 (1998). https://doi.org/10.1023/A:1005303818858
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DOI: https://doi.org/10.1023/A:1005303818858