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Items: 1 to 20 of 103

1.

Optical diagnosis of a metabolic disease: cystinosis.

Cinotti E, Perrot JL, Labeille B, Espinasse M, Ouerdane Y, Boukenter A, Thuret G, Gain P, Campolmi N, Douchet C, Cambazard F.

J Biomed Opt. 2013 Apr;18(4):046013. doi: 10.1117/1.JBO.18.4.046013.

PMID:
23612886
2.

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. doi: 10.1016/j.ophtha.2008.11.021.

PMID:
19410944
3.

Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study.

Liang H, Baudouin C, Tahiri Joutei Hassani R, Brignole-Baudouin F, Labbe A.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3218-25. doi: 10.1167/iovs.15-16499.

PMID:
26024106
4.

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.

5.

In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis.

Chiavérini C, Kang HY, Sillard L, Berard E, Niaudet P, Guest G, Cailliez M, Bahadoran P, Lacour JP, Ballotti R, Ortonne JP.

J Am Acad Dermatol. 2013 Apr;68(4):e111-6. doi: 10.1016/j.jaad.2011.08.010. Epub 2011 Oct 2.

PMID:
21963264
6.

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):100-20. Review.

PMID:
11001803
7.

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.

8.

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.

Servais A, Morinière V, Grünfeld JP, Noël LH, Goujon JM, Chadefaux-Vekemans B, Antignac C.

Clin J Am Soc Nephrol. 2008 Jan;3(1):27-35. doi: 10.2215/CJN.01740407.

9.

Corneal thickness in nephropathic cystinosis.

Katz B, Melles RB, Schneider JA, Rao NA.

Br J Ophthalmol. 1989 Aug;73(8):665-8.

10.

A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: the Cystadrops OCT-1 study.

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

Mol Genet Metab. 2014 Mar;111(3):314-20. doi: 10.1016/j.ymgme.2013.12.298. Epub 2014 Jan 9.

PMID:
24440466
11.

Identification of a soft tissue filler by ex vivo confocal microscopy and Raman spectroscopy in a case of adverse reaction to the filler.

Cinotti E, Perrot JL, Labeille B, Boukenter A, Ouerdane Y, Cosmo P, Douchet C, Grivet D, Cambazard F.

Skin Res Technol. 2015 Feb;21(1):114-8. doi: 10.1111/srt.12166. Epub 2014 Jul 26.

PMID:
25066771
12.

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. doi: 10.1097/ICO.0b013e318199eb5b.

PMID:
19654516
13.

A patient with cystinosis presenting transient features of Bartter syndrome.

Yildiz B, Durmuş-Aydoğdu S, Kural N, Bildirici K, Başmak H, Yarar C.

Turk J Pediatr. 2006 Jul-Sep;48(3):260-2.

14.

[Nephropathic and benign cystinosis (author's transl)].

Thiel HJ, Voigt GJ, Dörner K, Hake H, von Denffer H.

Klin Monbl Augenheilkd. 1980 Sep;177(3):324-35. German.

PMID:
7453068
15.

The value of conjunctival biopsy in childhood cystinosis.

Cruz-Sánchez FF, Cervós-Navarro J, Rodríguez-Prados S, Lennert T.

Histol Histopathol. 1989 Jul;4(3):305-8.

PMID:
2520466
16.

Treatment of corneal cystine crystal accumulation in patients with cystinosis.

Shams F, Livingstone I, Oladiwura D, Ramaesh K.

Clin Ophthalmol. 2014 Oct 10;8:2077-84. doi: 10.2147/OPTH.S36626. eCollection 2014. Review.

17.

In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis.

Fung AT, Fraser-Bell S, Ojaimi E, Sutton G.

Clin Experiment Ophthalmol. 2007 Apr;35(3):292-3.

PMID:
17430525
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.

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. doi: 10.1016/j.tripleo.2008.08.013. Epub 2008 Oct 16.

PMID:
18926732
20.

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. doi: 10.1089/gtmb.2008.0156.

PMID:
19580442
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