Cystinosis: quantitative assay of cystine accumulation of homozygotes and heterozygotes.

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作者信息

Kroll W, Lichte K H, Lutz P, Maurer R

出版信息

Humangenetik. 1973;17(4):337-40. doi: 10.1007/BF00273189.

DOI:10.1007/BF00273189

PMID:4694516

Abstract

摘要

相似文献

Cystinosis: quantitative assay of cystine accumulation of homozygotes and heterozygotes.

Humangenetik. 1973;17(4):337-40. doi: 10.1007/BF00273189.

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Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin.细胞外白蛋白对胱氨酸病成纤维细胞细胞内胱氨酸含量的调节作用。

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A high performance liquid chromatography method for the analysis of 35S-cystine: application to the diagnosis of cystinosis.一种用于分析35S-胱氨酸的高效液相色谱法：应用于胱氨酸病的诊断。

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引用本文的文献

Biochemical diagnosis of cystinosis using cultured cells.利用培养细胞对胱氨酸病进行生化诊断。

Arch Dis Child. 1974 Mar;49(3):209-12. doi: 10.1136/adc.49.3.209.

Cystinosis: a review of the different forms and of recent advances.胱氨酸病：不同形式及近期进展综述

Humangenetik. 1973;20(2):75-87. doi: 10.1007/BF00284842.

Infantile cystinosis in France: genetics, incidence, geographic distribution.法国的婴儿胱氨酸病：遗传学、发病率、地理分布

J Med Genet. 1976 Dec;13(6):434-8. doi: 10.1136/jmg.13.6.434.

本文引用的文献

Increased free-cystine content of fibroblasts cultured from patients with cystinosis.胱氨酸病患者培养的成纤维细胞中游离胱氨酸含量增加。

Biochem Biophys Res Commun. 1967 Nov 30;29(4):527-31. doi: 10.1016/0006-291x(67)90516-5.

Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。

J Biol Chem. 1951 Nov;193(1):265-75.

Cystinosis in an adult.成人胱氨酸病

J Am Med Assoc. 1957 May 25;164(4):394-6. doi: 10.1001/jama.1957.02980040034009.

Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis.胱氨酸病纯合子和杂合子个体白细胞中胱氨酸增加。

Science. 1967 Sep 15;157(3794):1321-2. doi: 10.1126/science.157.3794.1321.

[Early biochemical diagnosis of cystinosis from cultured fibroblasts].

Klin Wochenschr. 1970 Mar 15;48(6):366-8. doi: 10.1007/BF01484865.

The metabolism of amino acids, peptides, and disulfides in lysosomes of fibroblasts cultured from normal individuals and those with cystinosis.正常个体及患胱氨酸病个体所培养的成纤维细胞溶酶体中氨基酸、肽和二硫化物的代谢

J Exp Med. 1970 Dec 1;132(6):1090-104. doi: 10.1084/jem.132.6.1090.

Adult cystinosis--a benign disorder.成人胱氨酸病——一种良性疾病。

Am J Med. 1966 Apr;40(4):511-7. doi: 10.1016/0002-9343(66)90115-x.

Adolescent cystinosis: comparisons with infantile and adult forms.

Pediatrics. 1971 Jun;47(6):979-88.

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