BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 1250629)

  • 1. [Investigation of the frequency of heterozygotes for galactose-1-phosphate-uridyl-transferase-deficiency(galactosemia) in the Vienna area. Comparison with the frequency of homozygotes found by newborn screening (author's transl)].
    Scheibenreiter S; Scheiber V; Kiefer A
    Padiatr Padol; 1976; 11(1):305-12. PubMed ID: 1250629
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [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]  

  • 4. [Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)].
    Thalhammer O; Scheibenreiter S; Knoll E; Wehle E
    Klin Padiatr; 1980 Nov; 192(6):613-9. PubMed ID: 6452554
    [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. Newborn screening for galactosemia: a new method used in Manitoba.
    Greenberg CR; Dilling LA; Thompson R; Ford JD; Seargeant LE; Haworth JC
    Pediatrics; 1989 Aug; 84(2):331-5. PubMed ID: 2748263
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
    Mirzajani F; Mirfakhraie R; Nabati F; Tabatabaei NN; Talachian E; Houshmand M
    Clin Biochem; 2006 Jul; 39(7):697-9. PubMed ID: 16765930
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Pathobiochemistry of galactosemia and usefulness of the Gt system in expert opinions (author's transl)].
    Berg K; Schwarzfischer F; Wischerath H
    Med Klin; 1975 Nov; 70(46):1881-2. PubMed ID: 1186586
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].
    Heyne K; Shin YS; Schwinger E
    Monatsschr Kinderheilkd; 1988 Dec; 136(12):828-30. PubMed ID: 2853298
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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]  

  • 12. [Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)].
    Sitzmann FC; Istvan L; Teubl I; Kaloud H; Cholnoky P
    Wien Klin Wochenschr; 1978 Jan; 90(1):16-20. PubMed ID: 204112
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.
    Sitzmann FC; Schmid RD; Kaloud H
    Clin Chim Acta; 1977 Mar; 75(2):313-9. PubMed ID: 191219
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Galactosemia].
    Grodzka Z; Zbieg-Sendecka E
    Probl Med Wieku Rozwoj; 1979; 8():70-6. PubMed ID: 263529
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
    Item C; Hagerty BP; Mühl A; Greber-Platzer S; Stöckler-Ipsiroglu S; Strobl W
    Pediatr Res; 2002 Apr; 51(4):511-6. PubMed ID: 11919338
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Pathological findings in galactosemia caused by a galactose-1-phosphaturidyltransferase defect (author's transl)].
    Gathmann HA
    Klin Padiatr; 1977 Mar; 189(2):177-84. PubMed ID: 558474
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
    Tyfield L; Reichardt J; Fridovich-Keil J; Croke DT; Elsas LJ; Strobl W; Kozak L; Coskun T; Novelli G; Okano Y; Zekanowski C; Shin Y; Boleda MD
    Hum Mutat; 1999; 13(6):417-30. PubMed ID: 10408771
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Partial deficiency of galactose-1-phosphate uridyltransferase.
    Gitzelmann R; Bosshard NU
    Eur J Pediatr; 1995; 154(7 Suppl 2):S40-4. PubMed ID: 7671963
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
    Lee JY; Padilla CD; Chua EL
    Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():66-8. PubMed ID: 11405207
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.