Results 91 to 100 of about 2,800 (183)

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, Livingstone I, Oladiwura D, Ramaesh K   +3 more
doaj  

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis 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, Ghada Alzhrany, Reem Mohamed, Wafa Daw, Bashiar Alabbasi, Muawia Ahmed, Yassir Bakhiet, Yomna Aloufi, Majed Aloufi   +8 more
doaj   +1 more source

Ocular cystinosis – Clinical presentation and review of the literature

Indian Journal of Ophthalmology. Case Reports
Cystinosis is one of the rarest multisystem lysosomal storage disorders characterized by the accumulation of cystine in lysosomes due to a defective CTNS gene. Infantile nephropathic cystinosis (INC) is the most common and severe phenotype. Varied ocular
Shweta Dhiman, Santosh K Mahapatra, Anjalika Parhi, Pallavi Shree, Parul Jain   +4 more
doaj   +1 more source

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

Kidney involvement in rare hereditary diseases

Терапевтический архив
Various 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

Chitotriosidase plasma activity in nephropathic cystinosis

, 2009
Chitotriosidase 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 ...
Michelakakis, H., Dimitriou, E., Xaidara, A., Karavitakis, E.M., Emma, F., Kosma, K.   +5 more
core   +1 more source

Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom. [PDF]

BMC Nephrol, 2023
Lashilola S, Xu W, Azimpour K, McCarthy M, Carlot S, Game D, van der Voort J.   +6 more
europepmc   +1 more source

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]

, 2017
Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Raggi, Claudia, Devuyst, Olivier, Luciani, Alessandro, Antignac, Corinne, Terryn, Sara, Nevo, Nathalie   +5 more
core  

Genetic Landscape of Nephropathic Cystinosis in Russian Children. [PDF]

Front Genet, 2022
Savostyanov KV, Pushkov AA, Shchagina OA, Maltseva VV, Suleymanov EA, Zhanin IS, Mazanova NN, Fisenko AP, Mishakova PS, Polyakov AV, Balanovska EV, Zinchenko RA, Tsygin AN.   +12 more
europepmc   +1 more source

Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys. [PDF]

Kidney Int Rep, 2022
Chan L, Wichart J, Kiang T, Khurana R, Gangoiti JA, Barshop BA, Midgley J.   +6 more
europepmc   +1 more source