Infantile nephropathic cystinosis

Results 71 to 80 of about 575 (134)

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 +4 more
doaj +2 more sources

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 +8 more
doaj +1 more source

Corrigendum

, 2019
Clinical Case Reports, Volume 7, Issue 9, Page 1833-1833, September 2019.
wiley +1 more source

Renal and extra-renal outcome of siblings with infantile nephropathic cystinosis treated with cysteamine from symptomatic versus presymptomatic age: A multicentric sibling cohort study

, 2023
Veys, Koenraad +14 more
openalex +1 more source

Novel truncating mutation in the CTNS gene in an Egyptian family with cases of infantile nephropathic cystinosis and congenital heart malformations [PDF]