Literature DB >> 7078591

Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester.

R Steinherz, F Tietze, T Triche, A Modesti, W A Gahl, J D Schulman.   

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Year:  1982        PMID： 7078591     DOI： 10.1056/NEJM198206173062407

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

1.  Lysosomal cystine counter-transport in heterozygotes for cystinosis.

Authors:  W A Gahl; N Bashan; F Tietze; J D Schulman
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

2.  An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes.

Authors:  L A Smolin; K F Clark; J A Schneider
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

3.  High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

Authors:  G Jean; A Fuchshuber; M M Town; O Gribouval; J A Schneider; M Broyer; W van't Hoff; P Niaudet; C Antignac
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

4.  The history of cystinosis: lessons for clinical management.

Authors:  Paul Goodyer
Journal:  Int J Nephrol       Date:  2011-10-13

5.  Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.

Authors:  Diana M Iglesias; Reyhan El-Kares; Anna Taranta; Francesco Bellomo; Francesco Emma; Martine Besouw; Elena Levtchenko; Jaan Toelen; Lambertus van den Heuvel; Leelee Chu; Jing Zhao; Yoon Kow Young; Nicoletta Eliopoulos; Paul Goodyer
Journal:  PLoS One       Date:  2012-08-13       Impact factor: 3.240
  5 in total

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