These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
210 related articles for article (PubMed ID: 429011)
1. Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants. Schapira F; Gregori C; Banroques J; Vidailhet M; Despoisses S; Vigneron C Hum Genet; 1979 Jan; 46(1):89-96. PubMed ID: 429011 [TBL] [Abstract][Full Text] [Related]
2. Galactose-1-phosphate uridyl transferase in fibroblasts: isozymes in normal and variant states. Hammersen G; Mandell R; Levy HL Ann Hum Genet; 1975 Oct; 39(2):147-50. PubMed ID: 1052762 [TBL] [Abstract][Full Text] [Related]
3. [Classical galactosemia and the Duarte variant of transferase in a family]. Jurcić Z; Dogan K; Rudar D; Lipovac K; Cepelak I Acta Med Iugosl; 1978; 32(1):93-101. PubMed ID: 645435 [No Abstract] [Full Text] [Related]
4. Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. Levy HL; Sepe SJ; Walton DS; Shih VE; Hammersen G; Houghton S; Beutler E J Pediatr; 1978 Mar; 92(3):390-3. PubMed ID: 632977 [TBL] [Abstract][Full Text] [Related]
5. Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined radioisotopic assay and high-resolution isoelectric focusing. Kelley RI; Segal S J Lab Clin Med; 1989 Aug; 114(2):152-6. PubMed ID: 2546999 [TBL] [Abstract][Full Text] [Related]
6. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). Lin HC; Kirby LT; Ng WG; Reichardt JK Hum Genet; 1994 Feb; 93(2):167-9. PubMed ID: 8112740 [TBL] [Abstract][Full Text] [Related]
7. Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs. Shin YS; Endres W; Rieth M; Schaub J Clin Chim Acta; 1983 Mar; 128(2-3):271-81. PubMed ID: 6303628 [TBL] [Abstract][Full Text] [Related]
8. Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants. Andersen MW; Williams VP; Sparkes MC; Sparkes RS Hum Genet; 1984; 65(3):287-90. PubMed ID: 6321325 [TBL] [Abstract][Full Text] [Related]
9. Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes. Kelley RI; Feinberg DM; Segal S Hum Genet; 1989 May; 82(2):99-103. PubMed ID: 2542154 [TBL] [Abstract][Full Text] [Related]
10. Rennes-like variant of galactosemia: clinical and biochemical studies. Hammersen G; Houghton S; Levy HL J Pediatr; 1975 Jul; 87(1):50-57. PubMed ID: 1151546 [TBL] [Abstract][Full Text] [Related]
11. Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia. Schwarz HP; Zuppinger KA; Zimmerman A; Dauwalder H; Scherz R; Bier DM J Pediatr; 1982 May; 100(5):704-9. PubMed ID: 7069531 [TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus. Benson PF; Brandt NJ; Christensen E; Fensom AH Clin Genet; 1979 Nov; 16(5):311-6. PubMed ID: 519903 [TBL] [Abstract][Full Text] [Related]
13. Study of a family with both galactosemic and Duarte variants of galactose-1-phospho uridyl transferase. Schapira F; Gregori C; Poenaru L Biochem Med; 1974 Sep; 11(1):87-92. PubMed ID: 4415964 [No Abstract] [Full Text] [Related]
14. Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing. Kelley RI; Harris H; Mellman WJ Hum Genet; 1983; 63(3):274-9. PubMed ID: 6303941 [TBL] [Abstract][Full Text] [Related]
15. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Greber-Platzer S; Guldberg P; Scheibenreiter S; Item C; Schuller E; Patel N; Strobl W Hum Mutat; 1997; 10(1):49-57. PubMed ID: 9222760 [TBL] [Abstract][Full Text] [Related]
16. Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family. Ibarra B; Vaca G; Sánchez-Corona J; Hernández A; Ramirez ML; Cantú JM Hum Genet; 1979 Apr; 48(1):121-4. PubMed ID: 457126 [TBL] [Abstract][Full Text] [Related]
17. Study of a family with Los Angeles, Duarte, and classical galactosemia variants of galactose-1-phosphate uridyl transferase. Applegarth DA; Donnell GN; Mullinger M; Ng WG; Lowry AB Biochem Med; 1976 Apr; 15(2):206-11. PubMed ID: 962903 [No Abstract] [Full Text] [Related]
18. Variants of galactose-1-phosphate uridyl transferase in the Greek populations. Thomakos A; Beutler E; Stamatoyannopoulos G Hum Genet; 1977 May; 36(3):335-9. PubMed ID: 856721 [TBL] [Abstract][Full Text] [Related]
19. A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate. Lang A; Groebe H; Hellkuhl B; von Figura K Pediatr Res; 1980 May; 14(5):729-34. PubMed ID: 6247691 [TBL] [Abstract][Full Text] [Related]
20. Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families. Vaccaro AM; Mandara I; Muscillo M; Ciaffoni F; De Pellegrin S; Benincasa A; Novelletto A; Terrenato L Hum Hered; 1984; 34(4):197-206. PubMed ID: 6090305 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]