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Swiss Type, Acatalasemia

MedGen UID:
424831
•Concept ID:
C2936848
•
Disease or Syndrome
Synonym: Acatalasemia Swiss Type

Professional guidelines

PubMed

Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus.
Vitai M, Fátrai S, Rass P, Csordás M, Tarnai I
Clin Chem Lab Med 2005;43(12):1346-50. doi: 10.1515/CCLM.2005.230. PMID: 16309371

Recent clinical studies

Clinical prediction guides

Ether link cleavage is the major pathway of iodothyronine metabolism in the phagocytosing human leukocyte and also occurs in vivo in the rat.
Burger AG, Engler D, Buergi U, Weissel M, Steiger G, Ingbar SH, Rosin RE, Babior BM
J Clin Invest 1983 Apr;71(4):935-49. doi: 10.1172/jci110848. PMID: 6833495Free PMC Article
The role of enzyme variants, polymorphisms and enzyme hybrids in enzyme deficiency conditions.
Aebi H, Wyss SR
Acta Biol Med Ger 1981;40(4-5):537-41. PMID: 7315100
Catalase and dehydroascorbate reductase in human polymorphonuclear leukocytes (PMN): possible functional relationship.
Stankova L, Bigley R, Wyss SR, Aebi H
Experientia 1979 Jul 15;35(7):852-3. doi: 10.1007/BF01955106. PMID: 477829
Properties of erythrocyte catalase from homozygotes and heterozygotes for Swiss-type acatalasemia.
Aebi H, Wyss SR, Scherz B, Gross J
Biochem Genet 1976 Oct;14(9-10):791-807. doi: 10.1007/BF00485342. PMID: 64244

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