Results 21 to 30 of about 7,801 (251)

Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis [PDF]

Orphanet Journal of Rare Diseases
There are few studies assessing psychological burden and quality of life (QoL) in caregivers of pediatric patients with nephropathic cystinosis, a severe chronic disease.
Karina González, Teresa Eixarch, Laura Nuñez, Gema Ariceta   +3 more
doaj   +2 more sources

Transitioning Care in Nephropathic Cystinosis: Overcoming Challenges in Young Adults. [PDF]

Kidney Int Rep
Ghossein C, Nishi L.
europepmc   +2 more sources

Cystinosis

Klinische Monatsblätter für Augenheilkunde, 2023
AbstractCystinosis is a very rare autosomal recessive lysosomal storage disorder with an incidence of 1 : 150,000 – 1 : 200,000, and is caused by mutations in the CTNS gene encoding the lysosomal membrane protein cystinosin, which transports cystine out of the lysosome into the cytoplasm.
Katharina, Hohenfellner, Kirstin, Zerell, Dieter, Haffner   +2 more
openaire   +4 more sources

Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies

Cells, 2022
The activation of several inflammatory pathways has recently been documented in patients and different cellular and animal models of nephropathic cystinosis.
Mohamed A. Elmonem, Koenraad R. P. Veys, Giusi Prencipe   +2 more
doaj   +1 more source

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Orphanet Journal of Rare Diseases, 2023
Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain.
Douwe J. Horsthuis, Sophie Molholm, John J. Foxe, Ana A. Francisco   +3 more
doaj   +1 more source

Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis

JIMD Reports, 2023
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with ...
Stefanie Witt, Kaja Kristensen, Katharina Hohenfellner, Julia Quitmann   +3 more
doaj   +1 more source

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)

Orphanet Journal of Rare Diseases, 2021
Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain.
Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe, Sophie Molholm   +4 more
doaj   +1 more source

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. [PDF]

, 2019
Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Aldahmesh, Anikster, Bastug, Bertholet-Thomas, Cherqui, Chkioua, Cogan, Doneray, Elmonem, Emma, Forestier, Gahl, Gahl, Ghazi, Goldman, Higashi, Jaradat, Kalatzis, Kleta, Levy, McDowell, Sadeghipour, Servais, Shahkarami, Soliman, Thoene, Topaloglu, Topaloglu, Wamelink, Wilmer, Yang, Yeetong, Önenli-Mungan   +32 more
core   +3 more sources

Infantile Cystinosis [PDF]

, 2009
Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Castro, I, Neves, R
core   +1 more source

Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children

Iraqi Journal of Pharmaceutical Sciences, 2021
Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation ...
Zainab A. Al-Kinani, Shatha H. Ali
doaj   +1 more source