Works matching DE "CYSTINOSIS"

Results: 170

Successful treatment of respiratory dysfunction in cystinosis by nocturnal non-invasive positive pressure ventilation.

Published in:

Clinical Nephrology, 2006, v. 66, n. 4, p. 306, doi. 10.5414/CNP66306

By:

Edens, M. A.;
van Son, W. J.;
de Greef, M. H. G.;
Levtchenko, E .N.;
Blijham, T.;
Wijkstra, P. J.

Publication type:

Article

Perioperative care of the patient with nephropathic cystinosis.

Published in:

Pediatric Anesthesia, 2004, v. 14, n. 10, p. 878, doi. 10.1111/j.1460-9592.2004.01295.x

By:

Ray, Theresa L.;
Tobias, Joseph D.

Publication type:

Article

Hematological involvement in nephropathic cystinosis: new insights.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00051-0

By:

El-Ghamrawy, Mona;
Soliman, Neveen A.

Publication type:

Article

Cystinosis — a review of disease pathogenesis, management, and future treatment options.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00041-2

By:

Devitt, Lauren

Publication type:

Article

Unveiling cystinosis in India.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00046-x

By:

Heroor, Aniruddh;
Verma, Anshuman;
Achanta, Divya Sree;
Edward, Deepak Paul;
Ramappa, Muralidhar

Publication type:

Article

Poster Session 3: Drug Delivery.

Published in:: 2008
Publication type:: Other

Chemistry.

Published in:: 2007
Publication type:: Other

Cystinosis Patient Day in Iran.

Published in:

2014

By:

Basiratnia, Mitra

Publication type:

Proceeding

Genetic Disorders of Glutathione and Sulfur Amino-Acid Metabolism.

Published in:

Annals of Internal Medicine, 1980, v. 93, n. 2, p. 330, doi. 10.7326/0003-4819-93-2-330

By:

Schulman, Joseph D.;
Mudd, S. Harvey;
Schneider, Jerry A.;
Spielberg, Stephen P.;
Boxer, Laurence;
Oliver, Janet;
Corash, Laurence;
Sheetz, Michael

Publication type:

Article

Cystinosis.

Published in:: Annals of Internal Medicine, 1968, v. 68, n. 4, p. 883
Publication type:: Article

CTNS molecular genetics profile in a Persian nephropathic cystinosis population.

Published in:

Nefrologia, 2017, v. 37, n. 3, p. 301, doi. 10.1016/j.nefro.2016.11.024

By:

Ghazi, Farideh;
Hosseini, Rozita;
Akouchekian, Mansoureh;
Teimourian, Shahram;
Ataei Kachoei, Zohreh;
Otukesh, Hassan;
Gahl, William A.;
Behnam, Babak

Publication type:

Article

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

Published in:

Nefrologia, 2015, v. 35, n. 6, p. 547, doi. 10.1016/j.nefro.2015.09.009

By:

Jaradat, Saied;
Al-Rababah, Bothina;
Hazza, Issa;
Akl, Kamal;
Saca, Edward;
Al-Younis, Doaa

Publication type:

Article

The first Molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.

Published in:

Nefrologia, 2013, v. 33, n. 3, p. 308, doi. 10.3265/Nefrologia.pre2012.Sep.11558

By:

Shahkarami, Sepideh;
Galehdari, Hamid;
Ahmadzadeh, Ali;
Babaahmadi, Mahnaz;
Pedram, Mohammad

Publication type:

Article

Antioxidant Effect of Cysteamine in Brain Cortex of Young Rats.

Published in:

Neurochemical Research, 2008, v. 33, n. 5, p. 737

By:

Micheli Biasibetti;
Denizar da Silva Melo;
Moacir Wajner;
Carlos Dutra-Filho;
Ãngela de Souza Wyse;
Clovis Wannmacher

Publication type:

Article

Cystinosis: a review.

Published in:

2016

By:

Elmonem, Mohamed A.;
Veys, Koenraad R.;
Soliman, Neveen A.;
van Dyck, Maria;
van den Heuvel, Lambertus P.;
Levtchenko, Elena

Publication type:

journal article

Excellent long-term outcome of renal transplantation in cystinosis patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0307-9

By:

Cohen, Camille;
Charbit, Marina;
Chadefaux-Vekemans, Bernadette;
Giral, Magali;
Garrigue, Valérie;
Kessler, Michèle;
Antoine, Corinne;
Snanoudj, Renaud;
Niaudet, Patrick;
Kreis, Henri;
Legendre, Christophe;
Servais, Aude

Publication type:

Article

Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction.

Published in:

Nephrology Dialysis Transplantation, 2018, v. 33, n. 9, p. 1525, doi. 10.1093/ndt/gfx362

By:

Claramunt-Taberner, Debora;
Flammier, Sacha;
Gaillard, Ségolène;
Cochat, Pierre;
Peyruchaud, Olivier;
Machuca-Gayet, Irma;
Bacchetta, Justine

Publication type:

Article

Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults.

Published in:

Nephrology Dialysis Transplantation, 2015, v. 30, n. 3, p. 475, doi. 10.1093/ndt/gfu329

By:

Ariceta, Gema;
Lara, Enrique;
Camacho, Juan A.;
Oppenheimer, Federico;
Vara, Julia;
Santos, Fernando;
Muñoz, Miguel Angel;
Cantarell, Carmen;
Gil Calvo, Marta;
Romero, Rafael;
Valenciano, Blanca;
García-Nieto, Víctor;
Sanahuja, Maria José;
Crespo, José;
Justa, Maria Luisa;
Urisarri, Adela;
Bedoya, Rafael;
Bueno, Alberto;
Daza, Antonio;
Bravo, Juan

Publication type:

Article

Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA–EDTA Registry.

Published in:

Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv1, doi. 10.1093/ndt/gfu030

By:

Wühl, Elke;
van Stralen, Karlijn J.;
Wanner, Christoph;
Ariceta, Gema;
Heaf, James Goya;
Bjerre, Anna K.;
Palsson, Runolfur;
Duneau, Gabrielle;
Hoitsma, Andries J.;
Ravani, Pietro;
Schaefer, Franz;
Jager, Kitty J.

Publication type:

Article

Nephropathic cystinosis: an international consensus document.

Published in:

Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv87, doi. 10.1093/ndt/gfu090

By:

Emma, Francesco;
Nesterova, Galina;
Langman, Craig;
Labbé, Antoine;
Cherqui, Stephanie;
Goodyer, Paul;
Janssen, Mirian C.;
Greco, Marcella;
Topaloglu, Rezan;
Elenberg, Ewa;
Dohil, Ranjan;
Trauner, Doris;
Antignac, Corinne;
Cochat, Pierre;
Kaskel, Frederick;
Servais, Aude;
Wühl, Elke;
Niaudet, Patrick;
Van't Hoff, William;
Gahl, William

Publication type:

Article

Is genetic rescue of cystinosis an achievable treatment goal?

Published in:

Nephrology Dialysis Transplantation, 2014, v. 29, n. 3, p. 522, doi. 10.1093/ndt/gft270

By:

Cherqui, Stephanie

Publication type:

Article

A Pediatric Case Presented with Posterior Reversible Encephalopathy Due to Cystinosis: Case Report.

Published in:

2016

By:

ÖZÇELİK, Aysima;
PERK, Peren;
DEMİRCİOĞLU KILIÇ, Beltinge;
BÜYÜKÇELİK, Mithat;
BALAT, Ayşe

Publication type:

Case Study

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum.

Published in:

Ophthalmology & Therapy, 2018, v. 7, n. 2, p. 307, doi. 10.1007/s40123-018-0146-6

By:

Biswas, Susmito;
Gaviria, Martha;
Malheiro, Luísa;
Marques, João Pedro;
Giordano, Vincenzo;
Liang, Hong

Publication type:

Article

Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis.

Published in:

Ophthalmology & Therapy, 2017, v. 6, n. 1, p. 93, doi. 10.1007/s40123-017-0089-3

By:

Pinxten, Anne-Marie;
Hua, Minh-Tri;
Simpson, Jennifer;
Hohenfellner, Katharina;
Levtchenko, Elena;
Casteels, Ingele

Publication type:

Article

Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 3, p. 5, doi. 10.7860/JCDR/2015/10875.5692

By:

KANTHILA, JAYASHREE;
SMITHA, D. S. A.;
BHAT, KAMALAKSHI G.

Publication type:

Article

Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy.

Published in:

Annals of Internal Medicine, 2007, v. 147, n. 4, p. 242, doi. 10.7326/0003-4819-147-4-200708210-00006

By:

Gahl, William A.;
Balog, Joan Z.;
Kleta, Robert

Publication type:

Article

Hematological Manifestations of Nephropathic Cystinosis.

Published in:

Acta Haematologica, 2008, v. 119, n. 3, p. 169, doi. 10.1159/000134222

By:

Emadi, Ashkan;
Burns, Kathleen H.;
Confer, Bradley;
Borowitz, Michael J.;
Streiff, Michael B.

Publication type:

Article

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

Published in:

2018

By:

Bastug, Funda;
Nalcacioglu, Hulya;
Ozaltin, Fatih;
Korkmaz, Emine;
Yel, Sibel

Publication type:

journal article

Gastrointestinal Manifestations of Nephropathic Cystinosis in Children.

Published in:

Iranian Journal of Kidney Diseases, 2009, v. 3, n. 4, p. 218

By:

Nakhaii, Shahrbanoo;
Hooman, Nakysa;
Otoukesh, Hassan

Publication type:

Article

Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient.

Published in:

Journal of Translational Medicine, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12967-015-0494-0

By:

Conforti, Antonella;
Taranta, Anna;
Biagini, Simone;
Starc, Nadia;
Pitisci, Angela;
Bellomo, Francesco;
Cirillo, Valentina;
Locatelli, Franco;
Bernardo, Maria Ester;
Emma, Francesco

Publication type:

Article

FISH diagnosis of the common 57-kb deletion inCTNScausing cystinosis.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 510, doi. 10.1007/s00439-004-1170-2

By:

Bendavid, Claude;
Kleta, Robert;
Long, Robert;
Ouspenskaia, Maia;
Muenke, Maximilian;
Haddad, Bassem R.;
Gahl, William A.

Publication type:

Article

Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells.

Published in:

Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00021

By:

Zhang, Jinzhong;
He, Jing;
Johnson, Jennifer L.;
Rahman, Farhana;
Gavathiotis, Evripidis;
Cuervo, Ana Maria;
Catz, Sergio D.

Publication type:

Article

From the National Institutes of Health.

Published in:

1990

By:

Raub, William;
Raub, W

Publication type:

journal article

Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting.

Published in:

PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0154805

By:

Bellomo, Francesco;
Taranta, Anna;
Petrini, Stefania;
Venditti, Rossella;
Rocchetti, Maria Teresa;
Rega, Laura Rita;
Corallini, Serena;
Gesualdo, Loreto;
De Matteis, Maria Antonietta;
Emma, Francesco

Publication type:

Article

Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up.

Published in:

BMC Nephrology, 2002, v. 3, p. 8, doi. 10.1186/1471-2369-3-8

By:

Dixit, Mehul P.;
Greifer, Ira

Publication type:

Article

Can Cystinosis Cause Coronary Artery Dilatation?

Published in:

Pediatric Cardiology, 2006, v. 27, n. 2, p. 263, doi. 10.1007/s00246-005-1107-0

By:

Olgar, S.;
Nisli, K.;
Dindar, A.;
Omeroglu, R. E.;
Ertugrul, T.

Publication type:

Article

Clinicopathological features of ocular cystinosis.

Published in:

Clinical & Experimental Ophthalmology, 2008, v. 36, n. 8, p. 778, doi. 10.1111/j.1442-9071.2008.01886.x

By:

Kocabora, Mehmet Selim;
Ozbilen, Kemal Turgay;
Altunsoy, Muhsin;
Ahishali, Bulent;
Taskapili, Muhittin

Publication type:

Article

In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis.

Published in:

2007

By:

Fung, Adrian T.;
Fraser-Bell, Samantha;
Ojaimi, Elvis;
Sutton, Gerard

Publication type:

Letter

Lupus in a patient with cystinosis: is it drug induced?

Published in:

Lupus, 2015, v. 24, n. 13, p. 1452, doi. 10.1177/0961203315598017

By:

Eroglu, F. K.;
Besbas, N.;
Ozaltin, F.;
Topaloglu, R.;
Ozen, S.

Publication type:

Article

Cystinosis Presenting with Findings of Bartter Syndrome.

Published in:

2011

By:

Ozkan, Behzat;
Cay›r, Atilla;
Koflan, Celalettin;
Alp, Handan

Publication type:

Case Study

Haematological complications of cystinosis.

Published in:

European Journal of Haematology, 2015, v. 94, n. 2, p. 187, doi. 10.1111/ejh.12331

By:

Cornet, Edouard;
Repesse, Yohann

Publication type:

Article

Renal proximal tubular epithelium from patients with nephropathic cystinosis: Immortalized cell lines as in <em>vitro</em> model systems.

Published in:

Kidney International, 1995, v. 48, n. 2, p. 536, doi. 10.1111/1523-1755.ep15022919

By:

Racusen, Lorraine C.;
Wilson, Patricia D.;
Hartz, Patricia A.;
Fivush, Barbara A.;
Burrow, Christopher R.;
Philip, Elizabeth T.

Publication type:

Article

Abstracts.

Published in:: 1978
Publication type:: Abstract

Development of Fanconi syndrome during infancy in a patient with cystinosis.

Published in:

2006

By:

Levtchenko, Elena;
Monnens, Leo

Publication type:

Letter

Cell therapy for cystinosis*.

Published in:

Nephrology Dialysis Transplantation, 2010, v. 25, n. 7, p. 2103, doi. 10.1093/ndt/gfq198

By:

Terryn, Sara;
Devuyst, Olivier;
Antignac, Corinne

Publication type:

Article

Mood and illness experiences of adults with cystinosis.

Published in:

Renal Failure, 2015, v. 37, n. 5, p. 835, doi. 10.3109/0886022X.2015.1015391

By:

Beinart, Naomi;
Hackett, Ruth A.;
Graham, Christopher D.;
Weinman, John;
Ostermann, Marlies

Publication type:

Article

A Rare Case of Cystinosis Presenting with Alkalosis.

Published in:

Renal Failure, 2013, v. 35, n. 2, p. 279, doi. 10.3109/0886022X.2012.745116

By:

Topaloğlu, Naci;
Tekin, Mustafa;
Yıldırım, Şule;
Gencer, Baran

Publication type:

Article

Rare Presentation of Cystinosis Mimicking Bartter's Syndrome: Reports of Two Patients and Review of the Literature.

Published in:

Renal Failure, 2010, v. 32, n. 2, p. 277, doi. 10.3109/08860221003592804

By:

Çaltik, Aysun;
Akyüz, Sare Gülfem;
Erdogan, Özlem;
Bülbül, Mehmet;
Demircin, Gülay

Publication type:

Article

A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.

Published in:

2017

By:

Medic, Goran;
van der Weijden, Miriam;
Karabis, Andreas;
Hemels, Michiel;
Goran, Medic

Publication type:

journal article

Priority target conditions for algorithms for monitoring children's growth: Interdisciplinary consensus.

Published in:

PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0176464

By:

Scherdel, Pauline;
Reynaud, Rachel;
Pietrement, Christine;
Salaün, Jean-François;
Bellaïche, Marc;
Arnould, Michel;
Chevallier, Bertrand;
Piloquet, Hugues;
Jobez, Emmanuel;
Cheymol, Jacques;
Bichara, Emmanuelle;
null, null;
Heude, Barbara;
Chalumeau, Martin

Publication type:

Article