Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study [PDF]
, 2020 Anita Csorba +9 more
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Fertility management in cystinosis: A clinical perspective [PDF]
Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ.
Atherton, Andrea M +5 more
core +2 more sources
Cerebral atrophy and nephropathic cystinosis. [PDF]
, 1986 Pierre Cochat +4 more
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Nephropathic cystinosis in children: An overlooked disease
Saudi Journal of Kidney Diseases and Transplantation, 2009 Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. Corneal Cystine Crystal Scoring (CCCS) for diagnosis of nephropathic cystinosis was studied in all suspected children ...
Soliman Neveen +4 more
doaj
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus [PDF]
, 2017 Emily Joyce +5 more
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Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis
, 2021 Małgorzata Kowalczyk +3 more
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Neuropathic Cystinosis: A Rare Case Report
مجله كليه طب الكنديCystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana +2 more
doaj +1 more source
Perspectives From Cystinosis: Access to Healthcare May Be a Confounding Factor for Variant Classification [PDF]
Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular ...
Elenberg, Ewa +5 more
core +2 more sources
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation [PDF]
, 2018 Kozina A. Anastasiya +10 more
openalex +1 more source