Works matching Cystinosis


Results: 600
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    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
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    Craniofacial and dental findings in cystinosis.

    Published in:
    Oral Diseases, 2010, v. 16, n. 5, p. 488, doi. 10.1111/j.1601-0825.2010.01662.x
    By:
    • Bassim, CW;
    • Gautam, P;
    • Domingo, DL;
    • Balog, JZ;
    • Guadagnini, JP;
    • Gahl, WA;
    • Hart, TC
    Publication type:
    Article
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    Optical diagnosis of a metabolic disease: cystinosis.

    Published in:
    Journal of Biomedical Optics, 2013, v. 18, n. 4, p. 1, doi. 10.1117/1.JBO.18.4.046013
    By:
    • Cinotti, Elisa;
    • Perrot, Jean Luc;
    • Labeille, Bruno;
    • Espinasse, Marine;
    • Ouerdane, Youcef;
    • Boukenter, Aziz;
    • Thuret, Gilles;
    • Gain, Philippe;
    • Campolmi, Nelly;
    • Douchet, Catherine;
    • Cambazard, Frédéric
    Publication type:
    Article
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    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
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    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
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    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
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    First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.

    Published in:
    2005
    By:
    • Kleta, Robert;
    • Kaskel, Frederick;
    • Dohil, Ranjan;
    • Goodyer, Paul;
    • Guay-Woodford, Lisa M.;
    • Harms, Erik;
    • Ingelfinger, Julie R.;
    • Koch, Vera H.;
    • Langman, Craig B.;
    • Leonard, Mary B.;
    • Mannon, Roslyn B.;
    • Sarwal, Minnie;
    • Schneider, Jerry A.;
    • Skovby, Flemming;
    • Sonies, Barbara C.;
    • Thoene, Jess G.;
    • Trauner, Doris A.;
    • Gahl, William A.
    Publication type:
    Report
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