Results 1 to 10 of about 9,344 (281)
Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations). [PDF]
Orphanet J Rare Dis, 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.
Horsthuis DJ +3 more
europepmc +3 more sources
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.
Besouw, Martine +2 more
core +7 more sources
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.
M. A. Elmonem, K. Veys, G. Prencipe
semanticscholar +3 more sources
Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis
JIMD Reports, 2022 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
semanticscholar +2 more sources
Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy. [PDF]
Mol Genet Metab RepUntreated 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
Thoene JG.
europepmc +2 more sources
Urine-Derived Kidney Progenitor Cells in Cystinosis
Cells, 2022 Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
K. Veys +15 more
semanticscholar +3 more sources
Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned. [PDF]
Front PediatrCystinosis 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 ...
Borsheim B, Vissing A, Ghossein C.
europepmc +2 more sources
Infantile nephropathic cystinosis [PDF]
Kidney International, 2008 CASE PRESENTATION A Caucasian girl, the product of a non-consanguineous union, was delivered after a full-term uneventful pregnancy with a birth weight of 4.1 kg. At 15 months, she presented to the emergency room with signs of a respiratory illness and was found to weigh 6.14 kg, below the 3rd percentile for age.
D'Agati, V.D. +2 more
core +5 more sources
Orphanet Journal of Rare Diseases, 2023 Background While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease.
Derya Bako +4 more
semanticscholar +2 more sources
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
openalex +5 more sources