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Cells, 2021 Cystinosis is a rare inheritable lysosomal storage disorder characterized by cystine accumulation throughout the body, chronic kidney disease necessitating renal replacement therapy mostly during adolescence, and multiple extra-renal complications.
Ahmed Reda +2 more
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Cystinosis symposium: a rare disease model for comprehensive care [PDF]
Frontiers in PediatricsThe time to provide a forum for collaboration in cystinosis research underscored the recent Cystinosis Symposium: A Rare Disease Model for Comprehensive Care held at the New York Academy of Medicine, on 31 May 2024, an event sponsored by the Cystinosis ...
Ashley M. Gefen +3 more
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Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy [PDF]
Molecular Genetics and Metabolism ReportsUntreated nephropathic cystinosis is a lethal autosomal recessive disease. The current specific therapy, cysteamine, ameliorates the renal function loss, but does not alter the renal Fanconi syndrome, short stature, muscle weakness, male infertility, and
Jess G. Thoene
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Neuroretinal structure changes in infantile nephropathic cystinosis [PDF]
Orphanet Journal of Rare DiseasesBackground The aim of this study was to investigate the neuroretinal structure of patients with the lysosomal storage disease cystinosis. Methods In this retrospective cross-sectional analysis, optical coherence tomography (OCT) was used to measure the ...
Leonie Franziska Keidel +6 more
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The assessment and treatment of the musculoskeletal manifestations of cystinosis [PDF]
Frontiers in NephrologyCystinosis is a rare autosomal recessive lysosomal storage disease caused by a defective lysosomal cystine carrier protein, cystinosin, resulting in formation and deposition of cystine crystals throughout the body. The renal manifestations of the disease
Priya Singh +2 more
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Anaesthetic implications of cystinosis [PDF]
Canadian Journal of Anaesthesia, 1993 The author presents and discusses the anaesthetic care of a 12-yr-old boy with cystinosis. Cystinosis is a recessively inherited disorder of amino acid metabolism resulting in the abnormal intracellular accumulation of cystine. Anaesthetic care may be affected by variable end-organ involvement, most notably progressive renal deterioration beginning ...
Joseph D. Tobias
openaire +5 more sources
Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned [PDF]
Frontiers in PediatricsCystinosis is a rare, autosomal recessive disorder that results in a build up of the amino acid cystine in the body ( 1). With early diagnosis and advances in patient prognosis over the years, this has led to an increasing number of adolescents and ...
Brianna Borsheim +4 more
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Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis [PDF]
Journal of Translational MedicineBackground Cystinosis is a rare, incurable lysosomal storage disease caused by mutations in the CTNS gene encoding the cystine transporter cystinosin, which leads to lysosomal cystine accumulation in all cells of the body.
Sante Princiero Berlingerio +14 more
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Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis [PDF]
Autophagy ReportsRAB11FIP4 (RAB11 family interacting protein 4), a RAB11A (Ras-related protein Rab-11) effector protein downregulated in cystinosis, plays a crucial role in cellular trafficking.
Mouad Ait Kbaich +2 more
doaj +2 more sources
Intermediate cystinosis: a case report of 10-year treatment with cysteamine [PDF]
BMC NephrologyBackground Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases.
Mariko Kawamura +9 more
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