Literature DB >> 24693916

Nephropathic cystinosis--a gap between developing and developed nations.

Aurelia Bertholet-Thomas1, Justine Bacchetta, Velibor Tasic, Pierre Cochat.   

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Year:  2014        PMID： 24693916     DOI： 10.1056/NEJMc1309480

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


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  10 in total

1.  Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment.

Authors:  Aurélia Bertholet-Thomas; Debora Claramunt-Taberner; Ségolène Gaillard; Georges Deschênes; Elisabeth Sornay-Rendu; Pawel Szulc; Martine Cohen-Solal; Solenne Pelletier; Marie-Christine Carlier; Pierre Cochat; Justine Bacchetta
Journal:  Pediatr Nephrol       Date:  2018-02-12       Impact factor: 3.714

Review 2.  [Cystinosis : Diagnosis, cystine-depleting therapy, and transition].

Authors:  Jessica Kaufeld; Lutz T Weber; Christine Kurschat; Sima Canaan-Kuehl; Eva Brand; Jun Oh; Lars Pape
Journal:  Internist (Berl)       Date:  2018-08       Impact factor: 0.743

Review 3.  Skeletal implications and management of cystinosis: three case reports and literature review.

Authors:  Justine Bacchetta; Marcella Greco; Aurélia Bertholet-Thomas; François Nobili; Jozef Zustin; Pierre Cochat; Francesco Emma; Georges Boivin
Journal:  Bonekey Rep       Date:  2016-08-17

4.  Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria.

Authors:  Jayashree Kanthila; Smitha Dsa; Kamalakshi G Bhat
Journal:  J Clin Diagn Res       Date:  2015-03-01

5.  First report of CTNS mutations in a Chinese family with infantile cystinosis.

Authors:  Yong-jia Yang; Yuan Hu; Rui Zhao; Xinyu He; Liu Zhao; Ming Tu; Lijun Zhou; Jihong Guo; Linqian Wu; Tantai Zhao; Yi-min Zhu
Journal:  ScientificWorldJournal       Date:  2015-03-17

6.  [Peculiarity of infantile cystinosis in Tunisian children].

Authors:  Manel Jellouli; Hadhami Ben Turkia; Kamel Abidi; Yosra Hammi; Tahar Gargah
Journal:  Pan Afr Med J       Date:  2015-12-11

Review 7.  Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.

Authors:  Irma Machuca-Gayet; Thomas Quinaux; Aurélia Bertholet-Thomas; Ségolène Gaillard; Débora Claramunt-Taberner; Cécile Acquaviva-Bourdain; Justine Bacchetta
Journal:  Int J Mol Sci       Date:  2020-04-28       Impact factor: 5.923

Review 8.  Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts.

Authors:  Dieter Haffner; Maren Leifheit-Nestler; Candide Alioli; Justine Bacchetta
Journal:  Cells       Date:  2022-01-05       Impact factor: 6.600

Review 9.  Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review.

Authors:  Achini K Makuloluwa; Fatemeh Shams
Journal:  Clin Ophthalmol       Date:  2018-01-24

10.  Worldwide view of nephropathic cystinosis: results from a survey from 30 countries.

Authors:  Aurélia Bertholet-Thomas; Julien Berthiller; Velibor Tasic; Behrouz Kassai; Hasan Otukesh; Marcella Greco; Jochen Ehrich; Rejane de Paula Bernardes; Georges Deschênes; Sally-Ann Hulton; Michel Fischbach; Kenza Soulami; Bassam Saeed; Ehsan Valavi; Carlos Jose Cobenas; Bülent Hacihamdioglu; Gabrielle Weiler; Pierre Cochat; Justine Bacchetta
Journal:  BMC Nephrol       Date:  2017-07-03       Impact factor: 2.388
  10 in total

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