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Acatalasia discovered by accident during a disk operation.

作者信息

Pflüger G, Kaiser E

机构信息

Orthopedic Department, Evang. Hospital Vienna, Austria.

出版信息

Arch Orthop Trauma Surg (1978). 1988;107(3):189-90. doi: 10.1007/BF00451603.

DOI:10.1007/BF00451603
PMID:3382341
Abstract

During a disk operation, the wound was flushed with hydrogen peroxide, resulting in a blackish brown discoloration of the musculature without the formation of foam. Clinical observation caused the experienced biochemist to make the diagnosis of suspected acatalasia, a rare congenital metabolic defect which is inherited autosomally recessively. Investigation of the catalase activity in the hemolysate of the patient and his brother confirmed this suspicion and resulted in the first diagnosis of this condition in Austria.

摘要

相似文献

1
Acatalasia discovered by accident during a disk operation.
Arch Orthop Trauma Surg (1978). 1988;107(3):189-90. doi: 10.1007/BF00451603.
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Molecular defect in human acatalasia fibroblasts.
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3
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Hereditary catalase deficiencies and increased risk of diabetes.遗传性过氧化氢酶缺乏与糖尿病风险增加
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Methemoglobin formation by potassium ferrocyanide in the hemolysate of acatalasemic mice.
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7
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THE CATALASE PROTEIN OF ACATALASEMIC AND HYPOCATALASEMIC RED BLOOD CELLS. I. QUANTITATIVE PRECIPITIN STUDIES ON HEMOLYSATE AND ACETONE EXTRACT.无过氧化氢酶血症和低过氧化氢酶血症红细胞的过氧化氢酶蛋白。I. 对溶血产物和丙酮提取物的定量沉淀素研究。
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引用本文的文献

1
Catalase enzyme mutations and their association with diseases.过氧化氢酶基因突变及其与疾病的关联。
Mol Diagn. 2004;8(3):141-9. doi: 10.1007/BF03260057.

本文引用的文献

1
The enzymesubstrate compounds of bacterial catalase and peroxides.细菌过氧化氢酶和过氧化物的酶底物化合物。
Biochem J. 1950 Apr;46(4):402-14. doi: 10.1042/bj0460402.
2
NON-HEREDITARY HYPOCATALASIA.非遗传性过氧化氢酶缺乏症
Scand J Clin Lab Invest. 1965;17:295-6.
3
A DUAL HEREDITARY RED BLOOD CELL DEFECT IN ONE FAMILY: HYPOCATALASEMIA AND GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY.一个家族中的双遗传性红细胞缺陷:过氧化氢酶缺乏症和葡萄糖-6-磷酸脱氢酶缺乏症。
Acta Genet Med Gemellol (Roma). 1963 Jul;12:247-55. doi: 10.1017/s1120962300016231.
4
Catalase abnormality in a Caucasian family in the United States.
Science. 1963 May 17;140(3568):816-7. doi: 10.1126/science.140.3568.816.
5
Two cases of acatalasia in Switzerland.瑞士的两例过氧化氢酶缺乏症病例。
Experientia. 1961 Oct 15;17:466. doi: 10.1007/BF02158293.
6
Hypocatalasemia: a new genetic carrier state.低过氧化氢酶血症:一种新的基因携带状态。
J Clin Invest. 1960 Apr;39(4):610-9. doi: 10.1172/JCI104075.
7
Inter-individual variations in blood catalse activity.血液过氧化氢酶活性的个体间差异。
Scand J Clin Lab Invest. 1960;12(4):502-3. doi: 10.3109/00365516009065417.
8
Normal and abnormal blood catalase activity in adults.成人血液过氧化氢酶活性的正常与异常情况
Scand J Clin Lab Invest. 1958;10(1):26-33. doi: 10.3109/00365515809079911.
9
The assay of catalases and peroxidases.过氧化氢酶和过氧化物酶的测定
Methods Biochem Anal. 1954;1:357-424. doi: 10.1002/9780470110171.ch14.
10
Progressive oral gangrene probably due to lack of catalase in the blood (acatalasaemia); report of nine cases.进行性口腔坏疽可能因血液中缺乏过氧化氢酶(无过氧化氢酶血症);9例报告
Lancet. 1952 Dec 6;2(6745):1101-4. doi: 10.1016/s0140-6736(52)90939-2.