Results 41 to 50 of about 1,953 (203)

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

Cellular and Molecular Mechanisms of Nephropathic Cystinosis [PDF]

, 2022
Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2).

core   +1 more source

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 192-202, March 2022., 2022
Abstract Children with infantile nephropathic cystinosis (INC), an inherited lysosomal storage disease resulting in cystine accumulation in all body cells, are prone to progressive chronic kidney disease (CKD), impaired growth and reduced weight gain; however, systematic anthropometric analyses are lacking.
Rika Kluck, Sophia Müller, Celina Jagodzinski, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Nele Kanzelmeyer, Leo Pavičić, Dieter Haffner, Miroslav Zivicnjak   +17 more
wiley   +1 more source

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients [PDF]

, 2022
Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body.
Ariceta Iraola, Gema, Das, Anibh M, Emma, Francesco, Game, David S, Hulton, Sally A, Lange, Karin, Lapatto, Risto, Levtchenko, Elena, Liang, Hong, Sberro-Soussan, Rebecca, Servais, Aude, Topaloglu, Rezan, Universitat Autònoma de Barcelona, Wanner, Christoph, Webb, Nicholas J A   +14 more
core   +5 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

A Randomized, Double‐Blind, Placebo‐Controlled, Multiple Dose Escalation Study to Evaluate the Safety and Pharmacokinetics of ELX‐02 in Healthy Subjects

Clinical Pharmacology in Drug Development, Volume 10, Issue 8, Page 859-869, August 2021., 2021
Abstract ELX‐02 is an investigational compound being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis. Structurally, ELX‐02 is an aminoglycoside analogue that induces read‐through of nonsense mutations through interaction with the ribosome, resulting in the production of full‐length functional proteins ...
Andi Leubitz, Frederic Vanhoutte, Ming‐yi Hu, Kaela Porter, Efrat Gordon, Kathleen Tencer, Kathleen Campbell, Kate Banks, Tom Haverty   +8 more
wiley   +1 more source

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype

Cells, 2022
Nephropathic cystinosis is a rare and severe disease caused by disruptions in the CTNS gene. Cystinosis is characterized by lysosomal cystine accumulation, vesicle trafficking impairment, oxidative stress, and apoptosis. Additionally, cystinotic patients
Elena Sendino Garví, Rosalinde Masereeuw, Manoe J. Janssen   +2 more
doaj   +1 more source

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? [PDF]

, 2015
We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis ...
A Haschemi, Annette P. M. van den Elzen, Arvand Haschemi, Benjamin Nota, C Nagy, CW Bassim, Gajja S. Salomons, George J. G. Ruijter, Isabel Tavares de Almeida, JW Touchman, KA Freed, Luisa Diogo, Mirjam M. C. Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, Nelson Neves, NM Verhoeven, Paula Garcia, Ramon Bonte, Ruben J. J. F. Ramos, SG Heil, T Kardon   +24 more
core   +4 more sources

Executive Function in Nephropathic Cystinosis [PDF]

Cognitive and Behavioral Neurology, 2013
We studied executive function (EF) in children and adolescents with cystinosis.Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in all organs of the body, including the brain. Previous research has shown that individuals with cystinosis have visuospatial deficits, but normal intelligence and intact verbal abilities.
Angela O, Ballantyne, Amy M, Spilkin, Doris A, Trauner   +2 more
openaire   +2 more sources