Results 61 to 70 of about 6,860 (229)
Human Molecular Genetics, 2022 Cysteamine is currently the only therapy for nephropathic cystinosis. It significantly improves life expectancy and delays progression to end-stage kidney disease; however, it cannot prevent it.
Ester De Leo +14 more
semanticscholar +1 more source
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis [PDF]
Cystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision.
Banu Bozkurt +4 more
core +1 more source
Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.
Experimental and molecular pathology (Print)Cystinosis is a autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a cystine transporter.
Angelo Santoro +2 more
semanticscholar +1 more source
Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts
Cells, 2022 Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life ...
D. Haffner +3 more
semanticscholar +1 more source
Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.
Trends in Molecular Medicine, 2021 Nephropathic cystinosis is a severe, monogenic systemic disorder that presents early in life and leads to progressive organ damage, particularly affecting the kidneys.
A. Jamalpoor +4 more
semanticscholar +1 more source
Nephropathic cystinosis: an update on genetic conditioning
, 2021 Cystinosis is an autosomal recessive lysosomal storage disorder caused byCTNSgene mutations. TheCTNSgene encodes the protein cystinosin, which transports free cystine from lysosomes to cytoplasm.
TOPALOĞLU, REZAN
core +1 more source
Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives
Pediatric nephrology (Berlin, West)Gastrointestinal (GI) sequelae, such as vomiting, hyperacidity, dysphagia, dysmotility, and diarrhea, are nearly universal among patients with nephropathic cystinosis.
Mark W. Joseph +2 more
semanticscholar +1 more source
Magnetic Resonance in Medicine, Volume 96, Issue 1, Page 448-459, July 2026.ABSTRACT Purpose To develop and validate a practical, open‐source framework to overcome common issues in inline deployment of established offline MR reconstruction, including (1) scan disruption from lengthy reconstructions, (2) limited support for multi‐scan input reconstructions, (3) needs to adapt scripts for different raw‐data formats, and (4 ...
Zihan Ning +26 more
wiley +1 more source
Intermediate cystinosis: a case report of 10-year treatment with cysteamine
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
doaj +1 more source
Addressing the psychosocial aspects of transition to adult care in patients with cystinosis
Pediatric nephrology (Berlin, West)Cystinosis is a rare autosomal-recessive lysosomal storage disease that progressively affects multiple organs beginning with the kidneys. Patients require lifelong multidisciplinary care for the management of kidney disease and progressive extra-renal ...
S. Stabouli +15 more
semanticscholar +1 more source