Residual cystine transport activity for specific infantile and juvenile CTNS mutations in a PTEC-based addback model [PDF]
Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes.
David, Dries +5 more
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Improving the prognosis of nephropathic cystinosis
International Journal of Nephrology and Renovascular Disease, 2014 Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated.
Besouw, Martine Tp, Levtchenko, Elena N
openaire +5 more sources
Chitotriosidase plasma activity in nephropathic cystinosis
Journal of Inherited Metabolic Disease, 2009 SummaryChitotriosidase is a fully active chitinase produced and secreted by activated phagocytes. Plasma chitotriosidase activity is a well‐established marker of total disease burden in Gaucher disease that has proved useful in monitoring the response to both enzyme replacement and substrate reduction therapies in patients with Gaucher disease ...
Xaidara, A. +5 more
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The hen’s egg chorioallantoic membrane (HET-CAM) test to predict the ophthalmic irritation potential of a cysteamine-containing gel: quantification using Photoshop® and ImageJ. [PDF]
, 2015 A modified hen’s egg chorioallantoic membrane (HET-CAM) test has been developed, combining ImageJ analysis with Adobe® Photoshop®. The irritation potential of an ophthalmic medicine can be quantified using this method, by monitoring damage to blood ...
Cairns, Donald +4 more
core +1 more source
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
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
Treatment of corneal cystine crystal accumulation in patients with cystinosis
Clinical Ophthalmology, 2014 Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F +3 more
doaj
Intermediate type cystinosis with a novel CTNS variant in a child: a case report
Journal of Rare DiseasesCystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin +8 more
doaj +1 more source
Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis [PDF]
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Bellomo, Francesco +12 more
core +2 more sources
Kidney involvement in rare hereditary diseases
Терапевтический архивVarious rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors.
Sergey V. Moiseev, Eugene M. Shilov
doaj +1 more source