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Items: 1 to 20 of 33

1.

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

Bacchetta J, Greco M, Bertholet-Thomas A, Nobili F, Zustin J, Cochat P, Emma F, Boivin G.

Bonekey Rep. 2016 Aug 17;5:828. doi: 10.1038/bonekey.2016.55. eCollection 2016. Review.

PMID:
27579165
2.

Cystinosis: a review.

Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E.

Orphanet J Rare Dis. 2016 Apr 22;11:47. doi: 10.1186/s13023-016-0426-y. Review.

3.

Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.

Ivanova EA, De Leo MG, Van Den Heuvel L, Pastore A, Dijkman H, De Matteis MA, Levtchenko EN.

PLoS One. 2015 Mar 26;10(3):e0120998. doi: 10.1371/journal.pone.0120998. eCollection 2015.

4.

Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults.

Ariceta G, Lara E, Camacho JA, Oppenheimer F, Vara J, Santos F, Muñoz MA, Cantarell C, Gil Calvo M, Romero R, Valenciano B, García-Nieto V, Sanahuja MJ, Crespo J, Justa ML, Urisarri A, Bedoya R, Bueno A, Daza A, Bravo J, Llamas F, Jiménez Del Cerro LA.

Nephrol Dial Transplant. 2015 Mar;30(3):475-80. doi: 10.1093/ndt/gfu329. Epub 2014 Oct 26.

5.

Nephropathic cystinosis: an international consensus document.

Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94. doi: 10.1093/ndt/gfu090.

6.

Improving the prognosis of nephropathic cystinosis.

Besouw MT, Levtchenko EN.

Int J Nephrol Renovasc Dis. 2014 Jul 17;7:297-302. doi: 10.2147/IJNRD.S37603. eCollection 2014. Review.

7.

Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate.

Langman CB, Greenbaum LA, Grimm P, Sarwal M, Niaudet P, Deschenes G, Cornelissen EA, Morin D, Cochat P, Elenberg E, Hanna C, Gaillard S, Bagger MJ, Rioux P.

J Pediatr. 2014 Sep;165(3):528-33.e1. doi: 10.1016/j.jpeds.2014.05.013. Epub 2014 Jun 16.

8.

Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.

Prencipe G, Caiello I, Cherqui S, Whisenant T, Petrini S, Emma F, De Benedetti F.

J Am Soc Nephrol. 2014 Jun;25(6):1163-9. doi: 10.1681/ASN.2013060653. Epub 2014 Feb 13.

9.

Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

Al-Haggar M.

World J Nephrol. 2013 Nov 6;2(4):94-102. doi: 10.5527/wjn.v2.i4.94.

10.

Lysosome dysfunction in the pathogenesis of kidney diseases.

Surendran K, Vitiello SP, Pearce DA.

Pediatr Nephrol. 2014 Dec;29(12):2253-61. doi: 10.1007/s00467-013-2652-z. Epub 2013 Nov 12. Review.

11.

Clinical utility gene card for: cystinosis.

Levtchenko E, van den Heuvel L, Emma F, Antignac C.

Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.204. Epub 2013 Sep 18. No abstract available.

12.

Effect of age at treatment on cognitive performance in patients with cystinosis.

Viltz L, Trauner DA.

J Pediatr. 2013 Aug;163(2):489-92. doi: 10.1016/j.jpeds.2013.01.027. Epub 2013 Feb 22.

13.

The battlefield of rare diseases: where uncommon insights are common.

Gahl WA.

Sci Transl Med. 2012 Oct 3;4(154):154ed7. doi: 10.1126/scitranslmed.3004980. No abstract available.

14.

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

Iglesias DM, El-Kares R, Taranta A, Bellomo F, Emma F, Besouw M, Levtchenko E, Toelen J, van den Heuvel L, Chu L, Zhao J, Young YK, Eliopoulos N, Goodyer P.

PLoS One. 2012;7(8):e42840. doi: 10.1371/journal.pone.0042840. Epub 2012 Aug 13.

15.

Cystinosis: the evolution of a treatable disease.

Nesterova G, Gahl WA.

Pediatr Nephrol. 2013 Jan;28(1):51-9. doi: 10.1007/s00467-012-2242-5. Epub 2012 Aug 18. Review.

16.

A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport.

Jaenecke I, Boissel JP, Lemke M, Rupp J, Gasnier B, Closs EI.

J Biol Chem. 2012 Aug 31;287(36):30853-60. doi: 10.1074/jbc.M112.350322. Epub 2012 Jul 11.

17.

Cysteamine suppresses invasion, metastasis and prolongs survival by inhibiting matrix metalloproteinases in a mouse model of human pancreatic cancer.

Fujisawa T, Rubin B, Suzuki A, Patel PS, Gahl WA, Joshi BH, Puri RK.

PLoS One. 2012;7(4):e34437. doi: 10.1371/journal.pone.0034437. Epub 2012 Apr 20.

18.

Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.

Simpson JL, Nien CJ, Flynn KJ, Jester JV.

Mol Vis. 2011;17:2649-54. Epub 2011 Oct 8.

19.

The history of cystinosis: lessons for clinical management.

Goodyer P.

Int J Nephrol. 2011;2011:929456. doi: 10.4061/2011/929456. Epub 2011 Oct 13.

20.

Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse.

Simpson J, Nien CJ, Flynn K, Jester B, Cherqui S, Jester J.

Mol Vis. 2011;17:2212-20. Epub 2011 Aug 17.

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