Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.
about
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical regionCystinosis: a reviewCystinosis: the evolution of a treatable diseaseNephropathic cystinosis: an international consensus documentQuantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouseThe Role of Interleukin-22 and Its Receptor in the Development and Pathogenesis of Experimental Autoimmune UveitisCloudy corneas as an initial presentation of multiple myeloma.Craniofacial and dental findings in cystinosis.Treatment of corneal cystine crystal accumulation in patients with cystinosis.Cystinosis: practical tools for diagnosis and treatmentClinical profile and outcome of renal tubular disorders in children: A single center experience.A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.Pharmacological treatment of nephropathic cystinosis with cysteamine.Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell TransplantationLate-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.Clinical utility gene card for: cystinosis.The blind kidney: disorders affecting kidneys and eyes.Contact lenses as a platform for ocular drug delivery.The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.Systemic associations of corneal deposits: a review and photographic guide.Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis.In Vivo Confocal Microscopic Characteristics of Crystalline Keratopathy in Patients with Sclerokeratitis.Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report.Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I.Hirschsprung's disease with infantile nephropathic cystinosis.Confocal microscopy of the cornea in nephropathic cystinosisCharacterization of CTNS mutations in Arab patients with cystinosis.Nephropathic infantile form of cystinosis about one case.Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam.Slow progression of renal failure in a child with infantile cystinosis.Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.
P2860
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P2860
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Corneal crystals in nephropath ...... ment with cysteamine eyedrops.
@ast
Corneal crystals in nephropath ...... ment with cysteamine eyedrops.
@en
type
label
Corneal crystals in nephropath ...... ment with cysteamine eyedrops.
@ast
Corneal crystals in nephropath ...... ment with cysteamine eyedrops.
@en
prefLabel
Corneal crystals in nephropath ...... ment with cysteamine eyedrops.
@ast
Corneal crystals in nephropath ...... ment with cysteamine eyedrops.
@en
P2093
P356
P1476
Corneal crystals in nephropath ...... ment with cysteamine eyedrops.
@en
P2093
P304
P356
10.1006/MGME.2000.3062
P577
2000-09-01T00:00:00Z