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Items: 1 to 20 of 108

1.

Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.

Bäumner S, Weber LT.

Front Pediatr. 2018 Mar 14;6:58. doi: 10.3389/fped.2018.00058. eCollection 2018.

2.

Slow progression of renal failure in a child with infantile cystinosis.

Bitsori M, Vergadi E, Galanakis E.

CEN Case Rep. 2018 May;7(1):153-157. doi: 10.1007/s13730-018-0316-3. Epub 2018 Feb 14.

3.

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

Makuloluwa AK, Shams F.

Clin Ophthalmol. 2018 Jan 24;12:227-236. doi: 10.2147/OPTH.S133516. eCollection 2018. Review.

4.

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney.

Festa BP, Chen Z, Berquez M, Debaix H, Tokonami N, Prange JA, Hoek GV, Alessio C, Raimondi A, Nevo N, Giles RH, Devuyst O, Luciani A.

Nat Commun. 2018 Jan 11;9(1):161. doi: 10.1038/s41467-017-02536-7.

5.

Lysosomal storage diseases.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Review.

6.

Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam.

Ecel M, Sarı A, Delibaş A.

Turk J Ophthalmol. 2017 Oct;47(5):292-295. doi: 10.4274/tjo.69922. Epub 2017 Oct 27.

7.

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.

Sadeghipour F, Basiratnia M, Derakhshan A, Fardaei M.

Hum Genome Var. 2017 Oct 5;4:17038. doi: 10.1038/hgv.2017.38. eCollection 2017.

8.

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report.

Higashi S, Matsunoshita N, Otani M, Tokuhiro E, Nozu K, Ito S.

BMC Nephrol. 2017 Sep 26;18(1):300. doi: 10.1186/s12882-017-0721-4.

9.

Exacerbating and reversing lysosomal storage diseases: from yeast to humans.

Rajakumar T, Munkacsi AB, Sturley SL.

Microb Cell. 2017 Aug 25;4(9):278-293. doi: 10.15698/mic2017.09.588. Review.

10.

Structured Transition Protocol for Children with Cystinosis.

Raina R, Wang J, Krishnappa V.

Front Pediatr. 2017 Aug 31;5:191. doi: 10.3389/fped.2017.00191. eCollection 2017.

11.

The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.

Topaloglu R, Gulhan B, İnözü M, Canpolat N, Yilmaz A, Noyan A, Dursun İ, Gökçe İ, Gürgöze MK, Akinci N, Baskin E, Serdaroğlu E, Demircioğlu Kiliç B, Yüksel S, Övünç Hacihamdioğlu D, Korkmaz E, Hayran M, Ozaltin F; contributors of The Turkish Cystinosis Study Group.

Clin J Am Soc Nephrol. 2017 Aug 9. pii: CJN.00180117. doi: 10.2215/CJN.00180117. [Epub ahead of print]

PMID:
28793998
12.

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

Bertholet-Thomas A, Berthiller J, Tasic V, Kassai B, Otukesh H, Greco M, Ehrich J, de Paula Bernardes R, Deschênes G, Hulton SA, Fischbach M, Soulami K, Saeed B, Valavi E, Cobenas CJ, Hacihamdioglu B, Weiler G, Cochat P, Bacchetta J.

BMC Nephrol. 2017 Jul 3;18(1):210. doi: 10.1186/s12882-017-0633-3.

13.

ESCRTs function directly on the lysosome membrane to downregulate ubiquitinated lysosomal membrane proteins.

Zhu L, Jorgensen JR, Li M, Chuang YS, Emr SD.

Elife. 2017 Jun 29;6. pii: e26403. doi: 10.7554/eLife.26403.

14.

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.

Doneray H, Aldahmesh M, Yilmaz G, Cinici E, Orbak Z.

Eurasian J Med. 2017 Jun;49(2):148-151. doi: 10.5152/eurasianjmed.2017.17039.

15.

Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis.

Pinxten AM, Hua MT, Simpson J, Hohenfellner K, Levtchenko E, Casteels I.

Ophthalmol Ther. 2017 Jun;6(1):93-104. doi: 10.1007/s40123-017-0089-3. Epub 2017 May 5. Review.

16.

Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.

Zhang J, Johnson JL, He J, Napolitano G, Ramadass M, Rocca C, Kiosses WB, Bucci C, Xin Q, Gavathiotis E, Cuervo AM, Cherqui S, Catz SD.

J Biol Chem. 2017 Jun 23;292(25):10328-10346. doi: 10.1074/jbc.M116.764076. Epub 2017 May 2.

PMID:
28465352
17.

First Successful Conception Induced by a Male Cystinosis Patient.

Veys KR, D'Hauwers KW, van Dongen AJCM, Janssen MC, Besouw MTP, Goossens E, van den Heuvel LP, Wetzels AAMM, Levtchenko EN.

JIMD Rep. 2018;38:1-6. doi: 10.1007/8904_2017_19. Epub 2017 Apr 13.

18.

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.

Elmonem MA, Khalil R, Khodaparast L, Khodaparast L, Arcolino FO, Morgan J, Pastore A, Tylzanowski P, Ny A, Lowe M, de Witte PA, Baelde HJ, van den Heuvel LP, Levtchenko E.

Sci Rep. 2017 Feb 15;7:42583. doi: 10.1038/srep42583.

19.

Modulation of mTOR signaling as a strategy for the treatment of Pompe disease.

Lim JA, Li L, Shirihai OS, Trudeau KM, Puertollano R, Raben N.

EMBO Mol Med. 2017 Mar;9(3):353-370. doi: 10.15252/emmm.201606547.

20.

Bartter syndrome associated with nephropathic cystinosis.

Osman NM, Sanosi AA.

Sudan J Paediatr. 2016;16(2):93-98.

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