Results 181 to 190 of about 6,860 (229)

Corneal Densitometry to Assess the Corneal Cystine Deposits in Patients With Cystinosis

Cornea, 2022
Purpose: The purpose of this study was to assess the suitability of corneal densitometry measurements obtained with Scheimpflug imaging in estimating the corneal changes caused by cystine deposits in the cornea in patients with cystinosis.
S. Biswas, K. Alzahrani, H. Radhakrishnan   +2 more
semanticscholar   +1 more source

Therapy of Cystinosis

New England Journal of Medicine, 1985
Cystinosis is a recessively inherited disorder characterized by an accumulation of free cystine within lysosomes.
openaire   +2 more sources

Renal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature.

Transplant Immunology
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by cysteine buildup in various tissues, including the kidneys. Renal involvement is the primary manifestation, leading to end-stage renal disease (ESRD), if left untreated.
Karen El Ghoul, Dany Akiki, Nagi Nawfal, Maroun Abou Jaoudé   +3 more
semanticscholar   +1 more source

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

Cystinosis

New England Journal of Medicine, 2002
William A, Gahl, Jess G, Thoene, Jerry A, Schneider   +2 more
openaire   +2 more sources

Cystinosis: Status of research and treatment in India and the world

Journal of Biosciences, 2023
Nikita Vashist, Anup Arunrao Deshpande, Armugham Kanakaraj, R. Ravichandran, A. K. Bachhawat   +4 more
semanticscholar   +1 more source

Cystinosis

The Journal of Pediatrics, 1955
S, ISRAELS, H J, SUDERMAN
openaire   +2 more sources

Cystinosis: A review

Metabolism, 1977
J A, Schneider, J D, Schulman
openaire   +2 more sources

Ocular Cystinosis

American Journal of Ophthalmology, 1952
H G, GUILD, F B, WALSH, R E, HOOVER
openaire   +2 more sources

Nephropathic Cystinosis

American Journal of Ophthalmology, 1973
J, Read, M F, Goldberg, G, Fishman, I, Rosenthal   +3 more
openaire   +2 more sources