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Literature DB >> 12401840

Cystinosis: from gene to disease.

Vasiliki Kalatzis¹, Corinne Antignac.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2002 PMID： 12401840 DOI： 10.1093/ndt/17.11.1883

Source DB: PubMed Journal: Nephrol Dial Transplant ISSN： 0931-0509 Impact factor: 5.992

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Cited

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12 in total

1. Long-term outcome of nephropathic cystinosis: a 20-year single-center experience.

Authors: Marcella Greco; Milena Brugnara; Marco Zaffanello; Anna Taranta; Anna Pastore; Francesco Emma
Journal: Pediatr Nephrol Date: 2010-08-29 Impact factor: 3.714

2. Genetic Landscape of Nephropathic Cystinosis in Russian Children.

Authors: K V Savostyanov; A A Pushkov; O A Shchagina; V V Maltseva; E A Suleymanov; I S Zhanin; N N Mazanova; A P Fisenko; P S Mishakova; A V Polyakov; E V Balanovska; R A Zinchenko; A N Tsygin
Journal: Front Genet Date: 2022-04-28 Impact factor: 4.772

3. Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

Authors: Neveen A Soliman; Mohamed A Elmonem; Lambertus van den Heuvel; Rehab H Abdel Hamid; Mohamed Gamal; Inge Bongaers; Sandrine Marie; Elena Levtchenko
Journal: JIMD Rep Date: 2014-01-25

4. Chitotriosidase plasma activity in nephropathic cystinosis.

Authors: A Xaidara; E M Karavitakis; K Kosma; F Emma; E Dimitriou; H Michelakakis
Journal: J Inherit Metab Dis Date: 2009-05-20 Impact factor: 4.982

Review 5. Nephropathic cystinosis: late complications of a multisystemic disease.

Authors: Galina Nesterova; William Gahl
Journal: Pediatr Nephrol Date: 2008-06 Impact factor: 3.714

6. Sulfide Oxidation by O₂: Synthesis, Structure and Reactivity of Novel Sulfide-Incorporated Fe(II) Bis(imino)pyridine Complexes.

Authors: Leland R Widger; Maxime A Siegler; David P Goldberg
Journal: Polyhedron Date: 2013-07-13 Impact factor: 3.052

7. Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene.

Authors: Darine Villela; Lilian Kimura; David Schlesinger; Amanda Gonçalves; Peter L Pearson; Claudia K Suemoto; Carlos Pasqualucci; Ana Cristina Krepischi; Lea T Grinberg; Carla Rosenberg
Journal: Genet Mol Biol Date: 2013-11-08 Impact factor: 1.771