通过外周血白细胞的体外研究诊断枫糖尿症（支链酮酸尿症） - Suppr

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THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE.

作者信息

DANCIS J, HUTZLER J, LEVITZ M

出版信息

Pediatrics. 1963 Aug;32:234-8.

PMID:14044451

Abstract

摘要

相似文献

THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE.通过外周血白细胞的体外研究诊断枫糖尿症（支链酮酸尿症）

Pediatrics. 1963 Aug;32:234-8.

[CLINICAL, BIOCHEMICAL, AND NEUROPATHOLOGIC ASPECTS OF MAPLE SYRUP URINE DISEASE. A KETOACIDURIA OF THE OPEN CHAIN AMINOACIDS LEUCINE, ISOLEUCINE AND VALINE].

An Fac Med Lima. 1963 Sep;46:339-65.

LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE).

Acta Paediatr (Stockh). 1964 Jul;53:356-64. doi: 10.1111/j.1651-2227.1964.tb07789.x.

DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA).枫糖尿症（支链酮酸尿症）患儿的饮食治疗

Arch Dis Child. 1963 Oct;38(201):485-91. doi: 10.1136/adc.38.201.485.

THE EXCHANGE OF 14CO2 WITH BRANCHED-CHAIN KETOACIDS BY GUINEA-PIG LIVER.

Biochim Biophys Acta. 1963 Oct 8;78:90-3. doi: 10.1016/0006-3002(63)91613-5.

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.

MAPLE SYRUP URINE DISEASE.

J Maine Med Assoc. 1964 Jan;55:3-5.

Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro.体外人外周白细胞中枫糖尿症累积代谢物诱导的 L-肉碱引起的 DNA 损伤的预防。

Gene. 2014 Sep 15;548(2):294-8. doi: 10.1016/j.gene.2014.07.051. Epub 2014 Jul 18.

Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.一名19岁女性分支链酮酸尿症变异型的生化研究。

Pediatrics. 1971 Nov;48(5):795-801.

[Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency during treatment of maple syrup urine disease].枫糖尿症治疗期间因支链氨基酸缺乏继发的肠病性肢端皮炎样综合征

Ann Dermatol Venereol. 2006 Apr;133(4):375-9. doi: 10.1016/s0151-9638(06)70919-x.

引用本文的文献

[ANOTHER HETEROZYGOTE TEST FOR THE MAPLE SYRUP URINE DISEASE].[枫糖尿症的另一种杂合子检测]

Klin Wochenschr. 1963 Oct 1;41:941-3. doi: 10.1007/BF01478535.

Purification of a branched-chain keto acid dehydrogenase from Pseudomonas putida.从恶臭假单胞菌中纯化支链酮酸脱氢酶。

J Bacteriol. 1981 Nov;148(2):647-52. doi: 10.1128/jb.148.2.647-652.1981.

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.

Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease.

J Inherit Metab Dis. 1983;6(4):183-9. doi: 10.1007/BF02310879.

[Problems of quantitative diagnosis of hereditary metabolic diseases].

Klin Wochenschr. 1965 Oct 15;43(20):1071-4. doi: 10.1007/BF01734180.

The absence of inactivation at two autosomal loci.

Humangenetik. 1966;2(4):372-7. doi: 10.1007/BF00396454.

Down with plasma. Intracellular chemical pathology studied by analysis of cells of solid tissues, erythrocytes, and leukocytes.摒弃血浆。通过对实体组织细胞、红细胞和白细胞进行分析来研究细胞内化学病理学。

Proc R Soc Med. 1969 Sep;62(9):945-53. doi: 10.1177/003591576906200939.

Molecular basis of hereditary disease.遗传性疾病的分子基础。

Br Med J. 1968 Apr 20;2(5598):135-41. doi: 10.1136/bmj.2.5598.135.

Maple syrup urine disease variant: report on an infant.枫糖尿症变异型：一例婴儿报告。

Z Kinderheilkd. 1974 Feb 11;116(3):177-84. doi: 10.1007/BF00464456.

Differential effects of 2-oxo acids on pyruvate utilization and fatty acid synthesis in rat brain.2-氧代酸对大鼠脑内丙酮酸利用及脂肪酸合成的不同影响

Biochem J. 1974 Apr;140(1):25-9. doi: 10.1042/bj1400025.

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