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Results: 1 to 20 of 41

1.

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

Bertholet-Thomas A, Bacchetta J, Tasic V, Cochat P.

N Engl J Med. 2014 Apr 3;370(14):1366-7. doi: 10.1056/NEJMc1309480. No abstract available.

PMID:
24693916
[PubMed - indexed for MEDLINE]
Free Article
2.

Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.

Johnson JL, Napolitano G, Monfregola J, Rocca CJ, Cherqui S, Catz SD.

Mol Cell Biol. 2013 Aug;33(15):2950-62. doi: 10.1128/MCB.00417-13. Epub 2013 May 28.

PMID:
23716592
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Copper deficiency in patients with cystinosis with cysteamine toxicity.

Besouw MT, Schneider J, Janssen MC, Greco M, Emma F, Cornelissen EA, Desmet K, Skovby F, Nobili F, Lilien MR, De Paepe A, Malfait F, Symoens S, van den Heuvel LP, Levtchenko EN.

J Pediatr. 2013 Sep;163(3):754-60. doi: 10.1016/j.jpeds.2013.03.078. Epub 2013 May 4.

PMID:
23651769
[PubMed - indexed for MEDLINE]
4.

Cystinosis encephalopathy: MRI perivascular enhancement with micronodular T2* hypointensity.

Cazals X, Lauvin MA, Favelle O, Domengie F, Nivet H, Cottier JP.

Diagn Interv Imaging. 2013 Jun;94(6):653-5. doi: 10.1016/j.diii.2013.03.003. Epub 2013 Apr 17. No abstract available.

PMID:
23601359
[PubMed - indexed for MEDLINE]
5.

Executive function in nephropathic cystinosis.

Ballantyne AO, Spilkin AM, Trauner DA.

Cogn Behav Neurol. 2013 Mar;26(1):14-22. doi: 10.1097/WNN.0b013e31828b9f11.

PMID:
23538568
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Dental findings in a child with chronic renal failure secondary to cystinosis.

Andrade MR, Mendes PC, Primo LG.

Gen Dent. 2013 Mar-Apr;61(2):16-7; quiz 18.

PMID:
23454315
[PubMed - indexed for MEDLINE]
7.

Nephropathic cystinosis in a developing country: the Egyptian experience.

Soliman NA, Bazaraa HM, Abdel Hamid RH, Badawi N.

Saudi J Kidney Dis Transpl. 2013 Jan;24(1):147-9. No abstract available.

PMID:
23354215
[PubMed - indexed for MEDLINE]
Free Article
8.

A rare case of cystinosis presenting with alkalosis.

Topaloğlu N, Tekin M, Yıldırım Ş, Gencer B.

Ren Fail. 2013;35(2):279-81. doi: 10.3109/0886022X.2012.745116. Epub 2012 Nov 26.

PMID:
23176067
[PubMed - indexed for MEDLINE]
9.

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.

Jézégou A, Llinares E, Anne C, Kieffer-Jaquinod S, O'Regan S, Aupetit J, Chabli A, Sagné C, Debacker C, Chadefaux-Vekemans B, Journet A, André B, Gasnier B.

Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):E3434-43. doi: 10.1073/pnas.1211198109. Epub 2012 Nov 20. Erratum in: Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3197.

PMID:
23169667
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up.

Dohil R, Cabrera BL.

Pediatr Nephrol. 2013 Mar;28(3):507-10. doi: 10.1007/s00467-012-2315-5. Epub 2012 Sep 25.

PMID:
23001048
[PubMed - indexed for MEDLINE]
11.

Activation of AMP kinase plays a role in the increased apoptosis in the renal proximal tubule in cystinosis.

Taub M, Cutuli F.

Biochem Biophys Res Commun. 2012 Oct 5;426(4):516-21. doi: 10.1016/j.bbrc.2012.08.115. Epub 2012 Sep 6.

PMID:
22982317
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
22912749
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Diagnosis of cystinosis from a bone marrow aspirate.

Abdulsalam AH, Khamis MH, Bain BJ.

Am J Hematol. 2013 Feb;88(2):151. doi: 10.1002/ajh.23316. Epub 2012 Aug 22. No abstract available.

PMID:
22911541
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
22903658
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Anterior segment spectral-domain optical coherence tomography findings in cystinosis.

Guignier B, Samet I, Bourcier T.

Arch Ophthalmol. 2012 Aug;130(8):1018. doi: 10.1001/archophthalmol.2012.32. No abstract available.

PMID:
22893072
[PubMed - indexed for MEDLINE]
16.

Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate.

Besouw M, Tangerman A, Cornelissen E, Rioux P, Levtchenko E.

Mol Genet Metab. 2012 Sep;107(1-2):234-6. doi: 10.1016/j.ymgme.2012.06.017. Epub 2012 Jul 6.

PMID:
22832073
[PubMed - indexed for MEDLINE]
17.

Posterior reversible encephalopathy syndrome in cystinosis.

Marquardt L, Kuramatsu JB, Roesch J, Engelhorn T, Huttner HB.

Clin Neurol Neurosurg. 2013 May;115(5):644-5. doi: 10.1016/j.clineuro.2012.06.036. Epub 2012 Jul 15. No abstract available.

PMID:
22795770
[PubMed - indexed for MEDLINE]
18.

Cognition in nephropathic cystinosis: pattern of expression in heterozygous carriers.

Niemiec S, Ballantyne A, Trauner DA.

Am J Med Genet A. 2012 Aug;158A(8):1902-8. doi: 10.1002/ajmg.a.35467. Epub 2012 Jul 11.

PMID:
22786804
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

p62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis.

Sansanwal P, Sarwal MM.

Pediatr Nephrol. 2012 Nov;27(11):2137-44. doi: 10.1007/s00467-012-2227-4. Epub 2012 Jun 20.

PMID:
22714671
[PubMed - indexed for MEDLINE]
20.

Detailed studies of growth hormone secretion in cystinosis patients.

Besouw MT, Van Dyck M, Francois I, Van Hoyweghen E, Levtchenko EN.

Pediatr Nephrol. 2012 Nov;27(11):2123-7. doi: 10.1007/s00467-012-2213-x. Epub 2012 Jun 5.

PMID:
22664570
[PubMed - indexed for MEDLINE]

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