Results 181 to 190 of about 5,436 (204)

Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile

Muscle and Nerve, 2022
Nephropathic cystinosis is a lysosomal storage disorder with known myopathic features, including dysphagia. Evaluation of oropharyngeal swallowing physiology can be standardized using the Modified Barium Swallow Impairment Profile (MBSImP), a validated ...
Stacey L. Sullivan, Natalie R Grant, Colleen Hammond, W. David, F. Eichler, R. Sadjadi   +5 more
semanticscholar   +1 more source

Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis

Klinische Monatsblätter für Augenheilkunde, 2022
Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. This causes dysfunction of cystinosin, a protein that transports cystine out of lysosomes, causing cystine crystals to accumulate in cells in most organ ...
F. Kruse, L. Keidel, S. Priglinger, N. Luft, Claudia S Priglinger   +4 more
semanticscholar   +1 more source

Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis

Pediatric nephrology (Berlin, West), 2023
Ayako Ogata, Saori Deki, Toru Uchimura, A. Inaba, M. Otani, Shuichi Ito   +5 more
semanticscholar   +1 more source

In vivo confocal microscopy for ocular surface investigation in nephropathic cystinosis.

Journal Francais d'Ophtalmologie, 2023
H. Liang, B. Dupas, A. Labbé, C. Baudouin   +3 more
semanticscholar   +1 more source

Utility of post‐transplant native nephrectomy in children with nephropathic cystinosis: A single centre retrospective study

Nephrology, 2023
Ratna Acharya, Rachel Bush, Felicia Johns, K. Upadhyay   +3 more
semanticscholar   +1 more source

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Pediatric nephrology (Berlin, West), 2022
M. El Younsi, M. Trabelsi, Sandra Ben Youssef, I. Ouertani, Y. Hammi, Ahlem Achour, F. Maazoul, M. Kharrat, T. Gargah, R. M’rad   +9 more
semanticscholar   +1 more source

Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis‐associated cachexia

Journal of Cachexia, Sarcopenia and Muscle, 2020
Wei Ding, Ping Zhou, Shiping Li
exaly  

Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study.

Molecular Genetics and Metabolism
K. Veys, Mohamed A. Elmonem, Lambert van den Heuvel, William A Gahl, Elena Levtchenko   +4 more
semanticscholar   +1 more source

The sparkle in her eye : A rare case of non-nephropathic cystinosis

Indian Journal of Ophthalmology - Case Reports
Saloni M Joshi, Rakesh A Betdur, Madhumitha Duraisamy   +2 more
semanticscholar   +1 more source

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

Nature Reviews Nephrology, 2016
Stephanie Cherqui
exaly