@article{MTMT:2393891,
	title = {Further genetic heterogeneity in acatalasemia},
	url = {https://m2.mtmt.hu/api/publication/2393891},
	author = {Góth, László},
	doi = {10.1002/elps.1150181110},
	journal-iso = {ELECTROPHORESIS},
	journal = {ELECTROPHORESIS},
	volume = {18},
	unique-id = {2393891},
	issn = {0173-0835},
	abstract = {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.},
	keywords = {Humans; DNA; ERYTHROCYTES; human; short survey; Hungary; polymerase chain reaction; Base Sequence; frameshift mutation; gene mutation; Japan; sequence analysis; Gene Deletion; Catalase; Genetic Heterogeneity; Deoxyribonucleases, Type II Site-Specific; Codon; Acatalasia; catalase deficiency; Hungarian acatalasemia; Hypocatalasemia},
	year = {1997},
	eissn = {1522-2683},
	pages = {1942-1943}
}

@article{MTMT:2393893,
	title = {Reference ranges of normal blood catalase activity and levels in familial hypocatalasemia in Hungary},
	url = {https://m2.mtmt.hu/api/publication/2393893},
	author = {Vitai, Márta and Góth, László},
	doi = {10.1016/S0009-8981(97)06514-5},
	journal-iso = {CLIN CHIM ACTA},
	journal = {CLINICA CHIMICA ACTA},
	volume = {261},
	unique-id = {2393893},
	issn = {0009-8981},
	abstract = {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.},
	keywords = {Aged; Age Factors; Adult; Adolescent; Female; Middle Aged; Male; Humans; ARTICLE; human; Hungary; Pedigree; genetic screening; priority journal; major clinical study; controlled study; Sex Factors; Reference Standards; Mass Screening; Reference Values; Catalase; Hemoglobins; enzyme deficiency; reference value; enzyme blood level; determination; familial disease; electrophoretic mobility; BLOOD PROTEIN ELECTROPHORESIS; Genes, Recessive; Reference range; Acatalasia; Hypocatalasemia; Blood catalase},
	year = {1997},
	eissn = {1873-3492},
	pages = {35-42}
}

@article{MTMT:1906410,
	title = {Genetic heterogenety in acatalasemia.},
	url = {https://m2.mtmt.hu/api/publication/1906410},
	author = {Góth, László and Páy, Anikó},
	doi = {10.1002/elps.1150170805},
	journal-iso = {ELECTROPHORESIS},
	journal = {ELECTROPHORESIS},
	volume = {17},
	unique-id = {1906410},
	issn = {0173-0835},
	keywords = {Female; Male; Humans; DNA; POINT MUTATION; ARTICLE; human; polymerase chain reaction; nucleotide sequence; Catalase; Polymorphism, Single-Stranded Conformational; Genetic Heterogeneity; Metabolism, Inborn Errors; heteroduplex; Nucleic Acid Heteroduplexes; Acatalasia; catalase deficiency; Single strand conformational polymorphism; G to A splicing mutation; Hungarian acatalasemia},
	year = {1996},
	eissn = {1522-2683},
	pages = {1302-1303}
}

@article{MTMT:2393914,
	title = {Serum catalase activity for detection of hemolytic diseases.},
	url = {https://m2.mtmt.hu/api/publication/2393914},
	author = {Góth, László and Németh, H and Mészáros, I},
	doi = {10.1093/clinchem/29.4.741},
	journal-iso = {CLIN CHEM},
	journal = {CLINICAL CHEMISTRY},
	volume = {29},
	unique-id = {2393914},
	issn = {0009-9147},
	keywords = {BLOOD; human; letter; Hemolysis; Polarography; Catalase; hematologic disease; Hematologic Diseases},
	year = {1983},
	eissn = {1530-8561},
	pages = {741-743}
}