Results 41 to 50 of about 1,950 (208)

Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis

Nefrología (English Edition), 2015
Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saied Jaradat, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, Doaa Al-Younis   +5 more
doaj   +3 more sources

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

, 2022
Clinical recommendations; Cystinosis; Multidisciplinary careRecomendaciones clínicas; Cistinosis; Atención multidisciplinariaRecomanacions clíniques; Cistinosi; Atenció multidisciplinàriaCystinosis, a rare autosomal recessive lysosomal storage disorder ...
Ariceta Iraola, Gema, Emma, Francesco, Game, David S., Hulton, Sally A., Levtchenko, Elena, Servais, Aude   +5 more
core   +5 more sources

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source

Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam [PDF]

Türk Oftalmoloji Dergisi, 2017
We present a 7-year-old patient who was diagnosed with asymptomatic nephropathic cystinosis following the detection of the pathognomonic corneal white crystalline opacities during a routine eye examination.
Mahmut Ecel, Ayça Sarı, Ali Delibaş
doaj   +1 more source

Skeletal Consequences of Nephropathic Cystinosis [PDF]

Journal of Bone and Mineral Research, 2018
ABSTRACT   Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of skeletal disorders
Florenzano Valdés, Pablo Felipe, Ferreira, Carlos, Nesterova, Galina, Roberts, Mary Scott, Harsha Tella, Sri, Fernández de Castro, Luis, Brown, Sydney M., Whitaker, Adom, Pereira, Renata C., Bulas, Dorothy, Gafni, Rachel I., Salusky, Isidro B., Gahl, William A., Collins, Michael T.   +13 more
openaire   +3 more sources

Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate [PDF]

, 2012
Halitosis due to dimethylsulfide (DMS) generation is a major side effect of cysteamine in the treatment of cystinosis. Recently, an enteric coated formulation of cysteamine bitartrate (RP103) administered twice daily was demonstrated to be non-inferior ...
Besouw, Martine, Cornelissen, Elisabeth, Levtchenko, Elena, Rioux, Patrice, Tangerman, Albert   +4 more
core   +1 more source

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +1 more source

Prenatal diagnosis of cystinosis [PDF]

, 1975
Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured.
Blazer, Bonnie, Harris, Dorothy, Segal, Stanton, States, Beatrice   +3 more
core   +1 more source

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters [PDF]

, 2010
Reabsorption of filtered solutes from the glomerular filtrate and excretion of waste products and xenobiotics are the main functions of the renal proximal tubular (PT) epithelium.
Martijn J. Wilmer, Moin A. Saleem, Rosalinde Masereeuw, Lan Ni, Thea J. van der Velden, Frans G. Russel, Peter W. Mathieson, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko, M Bens, H Birn, AG Bodnar, CD Brown, CJ Detrisac, CJ Detrisac, A Dorrenhaus, AA El-Sheikh, IC Forster, WA Gahl, M Gekle, M Gekle, KM Madsen, K Malmstrom, S Nielsen, J O'Brien, MJ O'Hare, LC Racusen, LC Racusen, SJ Reshkin, FG Russel, MJ Ryan, MA Saleem, SC Satchell, AC Stamps, S Terryn, RA Aubel van, FM Water van de, C Weiland, MJG Wilmer, YS Yang, XY Zhai   +41 more
core   +2 more sources

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina   +7 more
doaj   +1 more source