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

Humangenetik ·Vol. 17 ·No. 4 ·1973-00-00 ·Pages 337-40

Kroll W, Lichte KH, Lutz P, Maurer R

Abstract

暂无摘要

MeSH Terms

Cells, Cultured Child Cystine/analysis,metabolism Cystinosis/metabolism Fibroblasts/analysis Genetic Counseling Heterozygote Homozygote Humans Molecular Biology Proteins/analysis

Chemicals

Proteins Cystine

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Kroll W

Lichte K H

Lutz P

Maurer R

References (8)

8 references, click to expand

Adult cystinosis--a benign disorder.
Am J Med. 1966 Apr;40(4):511-7 PMID: 5326434
Cystinosis in an adult.
J Am Med Assoc. 1957 May 25;164(4):394-6 PMID: 13415995
Adolescent cystinosis: comparisons with infantile and adult forms.
Pediatrics. 1971 Jun;47(6):979-88 PMID: 5141767
Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis.
Science. 1967 Sep 15;157(3794):1321-2 PMID: 6038997
[Early biochemical diagnosis of cystinosis from cultured fibroblasts].
Klin Wochenschr. 1970 Mar 15;48(6):366-8 PMID: 5520540
Increased free-cystine content of fibroblasts cultured from patients with cystinosis.
Biochem Biophys Res Commun. 1967 Nov 30;29(4):527-31 PMID: 16496530
The metabolism of amino acids, peptides, and disulfides in lysosomes of fibroblasts cultured from normal individuals and those with cystinosis.
J Exp Med. 1970 Dec 1;132(6):1090-104 PMID: 5516432
Protein measurement with the Folin phenol reagent.
J Biol Chem. 1951 Nov;193(1):265-75 PMID: 14907713

Article Info

Journal

Humangenetik

Abbr.

Humangenetik

ISSN

0018-7348

DOI

10.1007/BF00273189

Published

1973-00-00

Pages

337-40

Language

English

Region

Germany

NLM ID

7607154

Subset

External Links

PubMed source DOI: 10.1007/BF00273189

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

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