TY  - JOUR
AU  - Góth, László
TI  - Further genetic heterogeneity in acatalasemia
JF  - ELECTROPHORESIS
J2  - ELECTROPHORESIS
VL  - 18
PY  - 1997
IS  - 11
SP  - 1942
EP  - 1943
PG  - 2
SN  - 0173-0835
DO  - 10.1002/elps.1150181110
UR  - https://m2.mtmt.hu/api/publication/2393891
ID  - 2393891
AB  - A T-deletion at position 10 of exon 4 for catalase gene was reported as a novel mutation, causing a new genetic type of acatalasemia in Japan. This mutation, destroying a Hinf1 recognition site, was searched for in Hungarian acatalasemic (2) and hypocatalasemic (22) patients and in controls (27) by Hinf1 digestion and sequence analyses of a 203 bp polymerase chain reaction (PCR) product containing the entire exon 4. The Hinf1 polymorphism did not reveal any difference between controls and hypocatalasemic as well as acatalasemic patients. These results were confirmed by sequence analyses showing the T nucleotide for the two acatalasemic and for one unrelated hypocatalasemic patient, as well as for two controls. These findings represent further evidence that acatalasemia is heterogeneous at the DNA level.
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Vitai, Márta
AU  - Góth, László
TI  - Reference ranges of normal blood catalase activity and levels in familial hypocatalasemia in Hungary
JF  - CLINICA CHIMICA ACTA
J2  - CLIN CHIM ACTA
VL  - 261
PY  - 1997
IS  - 1
SP  - 35
EP  - 42
PG  - 8
SN  - 0009-8981
DO  - 10.1016/S0009-8981(97)06514-5
UR  - https://m2.mtmt.hu/api/publication/2393893
ID  - 2393893
AB  - In 1756 healthy individuals the mean and S.D. values of blood catalase activity were 113.3±16.5 MU/I with lower blood catalase for females (107.7±14.4 MU/I, n =880) than for males (117.9±16.8 MU/I, n=8761 while the ratios of blood catalase activity to blood hemoglobin concentration were not different (0.841 ± 0.107 MU/g versus 0.849±0.119 MU/g). The decrease of blood catalase with age was greater in males (b = 0.084 MU/1 year) than in females (b = -0.016 MU/1 year). The screening of 3300 healthy citizens for hypocatalasemia yielded six families (0.18%), and three families were identified out of 1630 clinic patients. These nine families revealed 37 hypocatalasemic patients with 57.5 ± 11.7 MU/I mean and S.D. of blood catalase activity. Similarly to the Japanese and the Hungarian actalasemic patients, the electrophoretic mobilities of catalase in erythrocytes of hypocatalasemic patients were indistinguishable from that of healthy controls.
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Góth, László
AU  - Páy, Anikó
TI  - Genetic heterogenety in acatalasemia.
JF  - ELECTROPHORESIS
J2  - ELECTROPHORESIS
VL  - 17
PY  - 1996
SP  - 1302
EP  - 1303
PG  - 2
SN  - 0173-0835
DO  - 10.1002/elps.1150170805
UR  - https://m2.mtmt.hu/api/publication/1906410
ID  - 1906410
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Góth, László
AU  - Németh, H
AU  - Mészáros, I
TI  - Serum catalase activity for detection of hemolytic diseases.
JF  - CLINICAL CHEMISTRY
J2  - CLIN CHEM
VL  - 29
PY  - 1983
IS  - 4
SP  - 741
EP  - 743
PG  - 3
SN  - 0009-9147
DO  - 10.1093/clinchem/29.4.741
UR  - https://m2.mtmt.hu/api/publication/2393914
ID  - 2393914
LA  - English
DB  - MTMT
ER  -