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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
doaj +5 more sources
Grip Strength in Adults and Children with Cystinosis
Kidney International Reports, 2021 Introduction: Chronic kidney disease (CKD) is associated with impaired muscle strength. Patients with cystinosis have an increased risk for impaired muscle strength because of early development of CKD and cystinosis-induced myopathy.
Chia-Shi Wang +2 more
exaly +3 more sources
Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience
Diagnostics, 2020 Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Mario Damiano Toro +2 more
exaly +3 more sources
A Personal History of Cystinosis by Dr. Jerry Schneider
Cells, 2022 Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr. Jerry Schneider. Dr. Schneider (1937–2021) received his medical degree from Northwestern University, followed by a pediatrics ...
Jerry Schneider, Elena Levtchenko
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Klinische Monatsblätter für Augenheilkunde, 2023 AbstractCystinosis is a very rare autosomal recessive lysosomal storage disorder with an incidence of 1 : 150,000 – 1 : 200,000, and is caused by mutations in the CTNS gene encoding the lysosomal membrane protein cystinosin, which transports cystine out of the lysosome into the cytoplasm.
Katharina, Hohenfellner +2 more
openaire +4 more sources
Orphanet Journal of Rare Diseases, 2023 Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain.
Douwe J. Horsthuis +3 more
doaj +1 more source
Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies
Cells, 2022 The activation of several inflammatory pathways has recently been documented in patients and different cellular and animal models of nephropathic cystinosis.
Mohamed A. Elmonem +2 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2016 Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation
Ibrahim, Mohamed +5 more
openaire +3 more sources
Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis
JIMD Reports, 2023 Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with ...
Stefanie Witt +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain.
Ana A. Francisco +4 more
doaj +1 more source