Results 231 to 240 of about 9,344 (281)

Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder. [PDF]

Pharmaceutics
Omer S, Nagy N, Pinke B, Mészáros L, Kazsoki A, Zelkó R.   +5 more
europepmc   +1 more source

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience. [PDF]

Cureus
Algasem R, Zainy N, Alsabban E, Almojalli H, Raza S, Ali T, Broering D, Rubaya N, Aleid H.   +8 more
europepmc   +1 more source

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants. [PDF]

Adv Biomed Res
Mohammadi Chermahini Z, Salehi M, Gheissari A, Ahmadi Beni F, Khosravian F, Kazemi M.   +5 more
europepmc   +1 more source

Fibrosing colonopathy associated with cysteamine bitartrate delayed-release capsules in cystinosis patients. [PDF]

Pediatr Nephrol
Kishk OA, Kim I, Cheng C, Summan M, Muñoz MA.   +4 more
europepmc   +1 more source

Cystinosis Registry of India: Data Analysis of Patients with Cystinosis.

Indian journal of nephrology
Kanakaraj, Arumugham, Ravichandran, Rajan   +1 more
openaire   +2 more sources

The pro-fibrotic role of autophagy in renal intrinsic cells: mechanisms and therapeutic potential in chronic kidney disease. [PDF]

Front Cell Dev Biol
Zhang YY, Zhou XT, Huang GZ, Liao WJ, Chen X, Ma YR.   +5 more
europepmc   +1 more source

CYSTINOSIS IN AN ADULT [PDF]

Journal of the American Medical Association, 1957
• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine ...
Toichiro Kuwabara, David G. Cogan, Linus Sheehan, Lorenzo Merola, Jin Kinoshita   +4 more
openaire   +2 more sources

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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