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]