Results 131 to 140 of about 5,436 (204)

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

ZenoSWATH DIA proteomics and clustering analysis of the effect of cysteamine at the cellular level in cystinotic fibroblasts [PDF]

[Abstract] Cysteamine, an aminothiol, is the only available treatment for cystinosis, an incurable metabolic recessive disease characterized by detrimental symptoms at the renal, ocular, and muscular levels.
Arufe, M.C., Carrera, Mónica, Fafián Labora, Juan Antonio, Fernández-Ferreiro, Anxo, González-Barcia, Miguel, Mateos, Jesús, Ortea, Ignacio, Rodríguez-Martínez, Lorena   +7 more
core   +1 more source

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries [PDF]

, 2017
Aurélia Bertholet‐Thomas, Julien Berthiller, Velibor Tasić, Behrouz Kassaï, Hasan Otukesh, Marcella Greco, J. H. H. Ehrich, Rejane de Paula Bernardes, Georges Deschênes, Sally-Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos J. Cobeñas, Bülent Hacıhamdioğlu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta   +18 more
openalex   +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, Caiello, Ivan, De Benedetti, Fabrizio, De Leo, Ester, Devuyst, Olivier, Diomedi-Camassei, Francesca, Emma, Francesco, Lamkanfi, Mohamed, Loricchio, Elena, Matteo, Valentina, Prencipe, Giusi, Rossi, Marianna Nicoletta, Taranta, Anna   +12 more
core   +2 more sources

PHARMACOLOGY OF PANTETHINE IN NEPHROPATHIC CYSTINOSIS [PDF]

, 1984
Carl T. Wittwer, Jess G. Thoene
openalex   +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

Successful Management of a Neglected Case of Nephropathic Cystinosis

Sultan Qaboos University Medical Journal, 2014
Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-
Mohamed A. El-Naggari, Ibtisam Elnour, Hussein Al-Kindy, Aamir Al-Shahrabally, Anas A. Abdelmogheth   +4 more
doaj   +2 more sources

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

Skeletal Consequences of Nephropathic Cystinosis [PDF]

, 2018
Pablo Florenzano, Carlos R. Ferreira, Galina Nesterova, Mary Scott Roberts, Sri Harsha Tella, Luis F de Castro, Sydney M Brown, Adom Whitaker, Renata C. Pereira, Dorothy Bulas, Rachel I. Gafni, Isidro B. Salusky, William A. Gahl, Michael T. Collins   +13 more
openalex   +1 more source