Kurdistan Journal of Applied Research, 2018 Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein +2 more
doaj +1 more source
Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis [PDF]
, 2018 Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited.
Ha Vinh, Russia +6 more
core
Fainting Fanconi syndrome clarified by proxy: a case report [PDF]
, 2017 BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses.
Bass, P +7 more
core +4 more sources
Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches
PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco +7 more
wiley +1 more source
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 +3 more
doaj
Urinary proteome pattern in children with renal Fanconi syndrome [PDF]
, 2017 Background. The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria.
Drube, Jens +7 more
core
336. Delivery Highways: Tunneling Nanotubes Facilitate Transfer of Therapeutic Molecules for Gene Therapy Treatment of Cystinosis [PDF]
, 2016 Spencer Goodman +5 more
openalex +1 more source
Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case report [PDF]
, 2022 Fatemeh Sarlaki, Saeid Morovvati
openalex +1 more source
The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion [PDF]
, 2000 Jeffrey W. Touchman +9 more
openalex +1 more source
Use of sample sequencing to identify candidate genes in the cystinosis critical region of chromosome 17p13 • 618 [PDF]
, 1997 Geraldine A. McDowell +7 more
openalex +1 more source