PubMed

Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy.

Tavares R, Coelho D, Macário MC, Torres A, Quadrado MJ, Murta J.

Cornea. 2009 Sep;28(8):938-40.PMID: 19654516 [PubMed - indexed for MEDLINE]Related articles

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.

Tang S, Danda S, Zoleikhaeian M, Simon M, Huang T.

Genet Test Mol Biomarkers. 2009 Aug;13(4):435-8.PMID: 19580442 [PubMed - indexed for MEDLINE]Related articles

Nephropathic cystinosis in children: An overlooked disease.

Soliman NA, El-Baroudy R, Rizk A, Bazaraa H, Younan A.

Saudi J Kidney Dis Transpl. 2009 May;20(3):436-42.PMID: 19414947 [PubMed - indexed for MEDLINE]Related articlesFree article

In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis.

Labbé A, Niaudet P, Loirat C, Charbit M, Guest G, Baudouin C.

Ophthalmology. 2009 May;116(5):870-6.PMID: 19410944 [PubMed - indexed for MEDLINE]Related articles

Non-contact anterior segment OCT for corneal crystals in cystinosis.

Norris J, Pilling R, Matthews B, Simmons I.

J Pediatr Ophthalmol Strabismus. 2009 Mar-Apr;46(2):128. No abstract available. PMID: 19343980 [PubMed - indexed for MEDLINE]Related articles

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis.

Ulmer FF, Landolt MA, Vinh RH, Huisman TA, Neuhaus TJ, Latal B, Laube GF.

Pediatr Nephrol. 2009 Jul;24(7):1371-8. Epub 2009 Mar 18.PMID: 19294426 [PubMed - indexed for MEDLINE]Related articles

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.

Lebre AS, Morinière V, Dunand O, Bensman A, Morichon-Delvallez N, Antignac C.

Eur J Hum Genet. 2009 Aug;17(8):1019-23. Epub 2009 Mar 4.PMID: 19259134 [PubMed - indexed for MEDLINE]Related articles

Clinicopathological features of ocular cystinosis.

Kocabora MS, Ozbilen KT, Altunsoy M, Ahishali B, Taskapili M.

Clin Experiment Ophthalmol. 2008 Nov;36(8):778-81.PMID: 19128385 [PubMed - indexed for MEDLINE]Related articles

Cystinosis, Fanconi syndrome, and odontogenic cysts.

DeVilliers P, Gutta R, Szymela VF.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Dec;106(6):866-71. Epub 2008 Oct 16.PMID: 18926732 [PubMed - indexed for MEDLINE]Related articles

Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.

Alcántara-Ortigoza MA, Belmont-Martínez L, Vela-Amieva M, González-Del Angel A.

Genet Test. 2008 Sep;12(3):409-14.PMID: 18752449 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial complex V expression and activity in cystinotic fibroblasts.

Wilmer MJ, van den Heuvel LP, Rodenburg RJ, Vogel RO, Nijtmans LG, Monnens LA, Levtchenko EN.

Pediatr Res. 2008 Nov;64(5):495-7.PMID: 18596576 [PubMed - indexed for MEDLINE]Related articles

Formulation and in vitro evaluation of cysteamine hydrochloride viscous solutions for the treatment of corneal cystinosis.

Bozdağ S, Gümüş K, Gümüş O, Unlü N.

Eur J Pharm Biopharm. 2008 Sep;70(1):260-9. Epub 2008 Apr 24.PMID: 18590953 [PubMed - indexed for MEDLINE]Related articles

Gene transfer may be preventive but not curative for a lysosomal transport disorder.

Hippert C, Dubois G, Morin C, Disson O, Ibanes S, Jacquet C, Schwendener R, Antignac C, Kremer EJ, Kalatzis V.

Mol Ther. 2008 Aug;16(8):1372-81. Epub 2008 Jun 24.PMID: 18578013 [PubMed - indexed for MEDLINE]Related articles

Hematological manifestations of nephropathic cystinosis.

Emadi A, Burns KH, Confer B, Borowitz MJ, Streiff MB.

Acta Haematol. 2008;119(3):169-72. Epub 2008 May 21.PMID: 18493119 [PubMed - indexed for MEDLINE]Related articles

Cholestatic liver disease in long-term infantile nephropathic cystinosis.

Cornelis T, Claes K, Gillard P, Nijs E, Roskams T, Lombaerts R, Nevens F, Cassiman D.

J Gastroenterol Hepatol. 2008 Aug;23(8 Pt 2):e428-31. Epub 2008 May 7.PMID: 18466290 [PubMed - indexed for MEDLINE]Related articles

Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis.

Wilmer MJ, Christensen EI, van den Heuvel LP, Monnens LA, Levtchenko EN.

Am J Kidney Dis. 2008 Jun;51(6):893-903. Epub 2008 May 2.PMID: 18455850 [PubMed - indexed for MEDLINE]Related articles

A case of intracranial hypertension and papilledema associated with nephropathic cystinosis and ocular involvement.

Parnes A, Wassner SJ, Weinstein JM.

Binocul Vis Strabismus Q. 2008;23(1):37-40.PMID: 18393938 [PubMed - indexed for MEDLINE]Related articles

Due to TV? Critiques and moral changes in our society; e-publishing; binocular vision vertical fusion; unique esotropia; papilledema and cystinosis.

Romano PE.

Binocul Vis Strabismus Q. 2008;23(1):21-2. No abstract available. PMID: 18393935 [PubMed - indexed for MEDLINE]Related articles

Renal cell carcinoma in a patient with cystinosis and inflammatory bowel disease: a case report.

Cameron C, Greenbaum L, Sato T, Trost B, Lundeen B, Kelly ME.

Pediatr Nephrol. 2008 Jul;23(7):1167-70. Epub 2008 Feb 20.PMID: 18286306 [PubMed - indexed for MEDLINE]Related articles

A potential new prodrug for the treatment of cystinosis: design, synthesis and in-vitro evaluation.

McCaughan B, Kay G, Knott RM, Cairns D.

Bioorg Med Chem Lett. 2008 Mar 1;18(5):1716-9. Epub 2008 Jan 18.PMID: 18249536 [PubMed - indexed for MEDLINE]Related articles