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Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts.

作者信息

Langenbeck U, Rüdiger H W, Schulze-Schencking M, Keller W, Brackertz D, Goedde H W

出版信息

Humangenetik. 1971;11(4):304-15. doi: 10.1007/BF00278658.

DOI:10.1007/BF00278658
PMID:5550595
Abstract
摘要

相似文献

1
Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts.白细胞和培养成纤维细胞中枫糖尿症杂合子检测的评估
Humangenetik. 1971;11(4):304-15. doi: 10.1007/BF00278658.
2
A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.枫糖尿症（支链酮酸尿症）的一种新变异型。临床与生化评估。
Am J Med. 1970 Jul;49(1):118-24. doi: 10.1016/s0002-9343(70)80121-8.
3
The enzyme defect in maple syrup urine disease (branched chain ketoaciduria).枫糖尿症（支链酮酸尿症）中的酶缺陷。
J Ment Defic Res. 1967 Dec;11(4):288-94. doi: 10.1111/j.1365-2788.1967.tb00233.x.
4
[HETEROZYGOTE TEST FOR MAPLE SYRUP URINE DISEASE. DETERMINATION OF THE ENZYMATIC ACTIVITY OF ALPHA-KETOISOCAPROIC ACID OXIDASE IN LEUKOCYTES].[枫糖尿症的杂合子检测。白细胞中α-酮异己酸氧化酶的酶活性测定]
Klin Wochenschr. 1963 Oct 1;41:953-4. doi: 10.1007/BF01478538.
5
Enzyme activity in classical and variant forms of maple syrup urine disease.枫糖尿症经典型和变异型中的酶活性。
J Pediatr. 1972 Aug;81(2):312-20. doi: 10.1016/s0022-3476(72)80301-9.
6
Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.通过白细胞和成纤维细胞中的微酶分析法快速诊断枫糖尿症（支链酮酸尿症）
Clin Chim Acta. 1973 May 30;45(4):433-40. doi: 10.1016/0009-8981(73)90046-6.
7
Letter: Historical observation in maple syrup urine disease.信函：枫糖尿症的历史观察
J Pediatr. 1974 Dec;85(6):868-9. doi: 10.1016/s0022-3476(74)80363-x.
8
Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts.源自培养的人成纤维细胞的异核体中枫糖尿症的互补分析。
Nature. 1973 Jun 29;243(5409):533-5. doi: 10.1038/243533a0.
9
In vivo and in vitro response of human branched chain alpha-ketoacid dehydrogenase to thiamine and thiamine pyrophosphate.人支链α-酮酸脱氢酶对硫胺素和硫胺素焦磷酸的体内及体外反应
Pediatr Res. 1978 Mar;12(3):235-8. doi: 10.1203/00006450-197803000-00016.
10
Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem.枫糖尿症的杂合子检测与遗传咨询：贝叶斯定理的应用
Humangenetik. 1975;27(4):315-22. doi: 10.1007/BF00278424.

引用本文的文献

1
Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.枫糖尿症杂合子的检测：细胞培养物中支链α-酮酸脱氢酶及其组分的测定
Am J Hum Genet. 1982 May;34(3):416-24.
2
Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease.经典型枫糖尿症中支链酮酸氧化酶多酶复合物中的脱羧酶缺陷。
Humangenetik. 1972;14(4):257-63. doi: 10.1007/BF00290167.
3
Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem.

本文引用的文献

1
An accurate and rapid method for the determination of proteins in small amounts of blood serum and plasma.一种用于测定少量血清和血浆中蛋白质的准确、快速的方法。
Am J Clin Pathol. 1946 Mar;10:40-9.
2
[LEUCINOSIS: A VARIANT OF BRANCHED-CHAIN KETO-ACIDURIA].[亮氨酸血症：支链酮酸尿症的一种变体]
Pediatrie. 1965 Mar;20:147-52.
3
[PROCEDURE FOR A SIMPLIFIED HETEROZYGOTE TEST FOR THE MAPLE SYRUP URINE DISEASE].[枫糖尿症简化杂合子检测程序]
枫糖尿症的杂合子检测与遗传咨询：贝叶斯定理的应用
Humangenetik. 1975;27(4):315-22. doi: 10.1007/BF00278424.
4
Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.异戊酸血症患者培养皮肤成纤维细胞中[1-(14)C]和[2-(14)C]亮氨酸的代谢。代谢缺陷的特征。
J Clin Invest. 1976 Jul;58(1):164-72. doi: 10.1172/JCI108446.
Klin Wochenschr. 1964 Aug 15;42:818-9. doi: 10.1007/BF01479137.
4
Metabolism of the white blood cells in maple-syrup-urine disease.枫糖尿症中白细胞的代谢
Biochim Biophys Acta. 1960 Sep 23;43:342-3. doi: 10.1016/0006-3002(60)90448-0.
5
A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.一种新综合征：与一种异常尿物质相关的进行性家族性婴儿脑功能障碍。
Pediatrics. 1954 Nov;14(5):462-7.
6
Biochemical studies on branched-chain oxoacid oxidases.支链氧代酸氧化酶的生化研究
Biochim Biophys Acta. 1967 Mar 15;132(2):524-5. doi: 10.1016/0005-2744(67)90176-3.
7
Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease.间歇性支链酮尿症。枫糖尿症的变异型。
N Engl J Med. 1967 Jan 12;276(2):84-9. doi: 10.1056/NEJM196701122760204.
8
[Studies on maple syrup disease in 2 families].[对两个家族枫糖尿症的研究]
Humangenetik. 1964;1(2):163-9. doi: 10.1007/BF00389634.
9
Acryl fibres for the isolation of human lymphocytes.用于分离人淋巴细胞的丙烯酸纤维。
Scand J Haematol. 1968;5(6):425-7. doi: 10.1111/j.1600-0609.1968.tb00862.x.
10
Genetically determined differences in the response of alpha-antitrypsin levels in human serum to typhoid vaccine.人类血清中α-抗胰蛋白酶水平对伤寒疫苗反应的基因决定差异。
Humangenetik. 1968;6(3):207-14. doi: 10.1007/BF00291864.