164 related articles for article (PubMed ID: 6091357)
1. [Determination of reference ranges for the activity of galactose-1-phosphate uridyltransferase (E.C. 2.7.7.12) in the blood using a simple optimized method of determination and comparison with the results of a half-quantitative screening method].
Ahlbehrendt I; Wagenknecht C
Z Med Lab Diagn; 1984; 25(5):257-62. PubMed ID: 6091357
[No Abstract] [Full Text] [Related]
2. Letter: Localisation of human gene for galactose-1-phosphate-uridyltransferase.
Allerdice PW; Tedesco TA
Lancet; 1975 Jul; 2(7923):39. PubMed ID: 49636
[No Abstract] [Full Text] [Related]
3. Galactosemia. Repository identification Nos. GM-438 to GM-442.
Kaffe S; Beratis NG; Hirschhorn K; Greene AE; Coriell LL
Cytogenet Cell Genet; 1976; 17(1):62-4. PubMed ID: 181209
[No Abstract] [Full Text] [Related]
4. An improved quantitative assay of galactose-1-phosphate uridyltransferase activity in erythrocytes based on the determination of glucose 1-phosphate generation.
Schutgens RB; Berntssen WJ; Pool L
Clin Chim Acta; 1978 Jun; 86(3):301-5. PubMed ID: 668120
[TBL] [Abstract][Full Text] [Related]
5. [Prenatal and postnatal determination of galactose-1-phosphate uridyltransferase genotypes].
Christensen E; Brandt NJ
Ugeskr Laeger; 1979 Nov; 141(47):3215-7. PubMed ID: 524501
[No Abstract] [Full Text] [Related]
6. [Galactosemia; variability in clinical aspects and problems in the diagnosis].
van Wijk-Hoek JM; de Klerk JB; Cats BP; Gerards LJ; van der Heiden C
Ned Tijdschr Geneeskd; 1985 Sep; 129(38):1836-40. PubMed ID: 2997633
[No Abstract] [Full Text] [Related]
7. [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]
8. 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]
9. 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]
10. Falsely normal value in fluorometric transferase screening of galactosemic blood. A cautionary note.
Beutler E; Gelbart T
Am J Clin Pathol; 1981 Dec; 76(6):841-2. PubMed ID: 6274187
[TBL] [Abstract][Full Text] [Related]
11. Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods.
De Bruyn CH; Raymakers C; Wensing A; Oei TL
Clin Chim Acta; 1977 Jul; 78(1):145-50. PubMed ID: 884844
[TBL] [Abstract][Full Text] [Related]
12. Gonadal failure in young women and galactose-1-phosphate uridyl transferase activity.
Hagenfeldt K; von Döbeln U; Hagenfeldt L
Fertil Steril; 1989 Jan; 51(1):177-8. PubMed ID: 2535985
[TBL] [Abstract][Full Text] [Related]
13. Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.
Shin YS; Zschocke J; Das AM; Podskarbi T
J Inherit Metab Dis; 1999 May; 22(3):327-9. PubMed ID: 10384398
[No Abstract] [Full Text] [Related]
14. 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]
15. [The electrophoretic stability of galactose-1-phosphate-uridyltransferase (E.C.2.7.7.12) after aging under various methods of preservation].
Haass E; Henke J
Beitr Gerichtl Med; 1980; 38():263-6. PubMed ID: 6257225
[No Abstract] [Full Text] [Related]
16. An unusual form of galactosemia: studies on erythrocytes and hair roots.
de Bruyn CH; Oei TL; Monnens LA; Trijbels JM
Clin Genet; 1978 Jan; 13(1):8-16. PubMed ID: 203421
[TBL] [Abstract][Full Text] [Related]
17. Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
Maceratesi P; Sangiuolo F; Novelli G; Ninfali P; Magnani M; Reichardt JK; Dallapiccola B
Hum Mutat; 1996; 8(4):369-72. PubMed ID: 8956044
[No Abstract] [Full Text] [Related]
18. [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
Bosch AM; Waterham HR; Bakker HD
Ned Tijdschr Geneeskd; 2004 Jan; 148(2):80-1. PubMed ID: 14753129
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene.
Wadelius C; Lagerkvist A; Molin AK; Larsson A; von Döbeln U; Pettersson U
Genomics; 1993 Aug; 17(2):525-6. PubMed ID: 8406510
[No Abstract] [Full Text] [Related]
[Next] [New Search]
