Literature DB >> 4825626

Biochemical diagnosis of cystinosis using cultured cells.

P Willcox, A D Patrick.   

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Year:  1974        PMID: 4825626      PMCID: PMC1648714          DOI: 10.1136/adc.49.3.209

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


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  8 in total

1.  Increased free-cystine content of fibroblasts cultured from patients with cystinosis.

Authors:  J A Schneider; F M Rosenbloom; K H Bradley; J E Seegmiller
Journal:  Biochem Biophys Res Commun       Date:  1967-11-30       Impact factor: 3.575

2.  The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.

Authors:  J C Fratantoni; C W Hall; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1968-06       Impact factor: 11.205

3.  Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts.

Authors:  H Goldman; C R Scriver; K Aaron; L Pinsky
Journal:  Lancet       Date:  1970-04-18       Impact factor: 79.321

4.  Role of amniocentesis in the intrauterine detection of genetic disorders.

Authors:  H L Nadler; A B Gerbie
Journal:  N Engl J Med       Date:  1970-03-12       Impact factor: 91.245

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

Authors:  W Kroll; K H Lichte; P Lutz; R Maurer
Journal:  Humangenetik       Date:  1973

6.  Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report.

Authors:  J D Schulman; W Y Fujimoto; K H Bradley; J E Seegmiller
Journal:  J Pediatr       Date:  1970-09       Impact factor: 4.406

7.  Transport and intracellular fate of cysteine-35S in leukocytes from normal subjects and patients with cystinosis.

Authors:  J A Schneider; K H Bradley; J E Seegmiller
Journal:  Pediatr Res       Date:  1968-11       Impact factor: 3.756

8.  Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis.

Authors:  J A Schneider; K Bradley; J E Seegmiller
Journal:  Science       Date:  1967-09-15       Impact factor: 47.728

  8 in total

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