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3. Problems in the diagnosis of transferase and galactokinase deficient galactosemia. Pesce MA; Bodourian SH Ann Clin Lab Sci; 1980; 10(1):26-32. PubMed ID: 7362195 [TBL] [Abstract][Full Text] [Related]
4. A mouse model of galactose-1-phosphate uridyl transferase deficiency. Leslie ND; Yager KL; McNamara PD; Segal S Biochem Mol Med; 1996 Oct; 59(1):7-12. PubMed ID: 8902187 [TBL] [Abstract][Full Text] [Related]
5. [Galactosemia]. Grodzka Z; Zbieg-Sendecka E Probl Med Wieku Rozwoj; 1979; 8():70-6. PubMed ID: 263529 [TBL] [Abstract][Full Text] [Related]
6. [Clinical and biochemical diagnosis of galactosemia among our cases]. Bozkowa K; Zbieg-Sendecka E; Grodzka Z; Cabalska B Probl Med Wieku Rozwoj; 1979; 8():63-9. PubMed ID: 263527 [TBL] [Abstract][Full Text] [Related]
7. THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT. ROBINSON A J Exp Med; 1963 Sep; 118(3):359-70. PubMed ID: 14077997 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. Dobrowolski SF; Banas RA; Suzow JG; Berkley M; Naylor EW J Mol Diagn; 2003 Feb; 5(1):42-7. PubMed ID: 12552079 [TBL] [Abstract][Full Text] [Related]
12. Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency. Vaca G; Sanchez-Corona J; Medina C; Olivares N; Rivera H; Hernández A; Ibarra B; Sotomayor JM; Cantú JM Arch Invest Med (Mex); 1978; 9(3):477-84. PubMed ID: 568459 [TBL] [Abstract][Full Text] [Related]
13. The Chicago variant of clinical galactosemia. Chacko CM; Wappner RS; Brandt IK; Nadler HL Hum Genet; 1977 Jul; 37(3):261-70. PubMed ID: 885545 [TBL] [Abstract][Full Text] [Related]
14. [Biochemical mechanisms of the development of hereditary galactosemia in W/SSM strain rats]. Solov'eva NA; Salganik RI Genetika; 1982 Mar; 18(3):420-7. PubMed ID: 7200438 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Galactosemia: when is it a newborn screening emergency? Berry GT Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615 [TBL] [Abstract][Full Text] [Related]
17. Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia. Sitzmann FC; Kaloud H Clin Chim Acta; 1976 Nov; 72(3):343-51. PubMed ID: 184990 [TBL] [Abstract][Full Text] [Related]
18. [Identification of inborn errors of galactose metabolism in patients with cataracts]. Vaca-Pacheco G; Medina C; García-Cruz D; Sánchez-Corona J; Chávez-Anaya E; Jaimes C; Hernández-Córdova A Arch Invest Med (Mex); 1990; 21(2):127-32. PubMed ID: 2103700 [TBL] [Abstract][Full Text] [Related]
19. 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]