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Literature

At the suggestion of some of those affected, we will make relevant literature on the disease available here in the future:

    • Katharina Hohenfellner, MD, PhD, Jens Deerberg-Wittram, MDCoordinated, Cost-effective Care for Rare Disease: The Cystinosis Outpatient Consultation Program at RoMed Vol. 1 No. 4 | June 17, 2020, DOI: 10.1056/CAT.19.1116
      Download full article (PDF, extern link)

 

    • Leonie Keidel , Carolin Elhardt , Katharina Hohenfellner , Siegfried Priglinger , Benedikt Schworm , Christian Wertheimer , Claudia Priglinger , Nikolaus Luft
      Establishing an objective biomarker for corneal cystinosis using a threshold-based Spectral domain optical coherence tomography imaging algorithm, PMID: 32833325, DOI: 10.1111/aos.14569
      Download full article (extern link)

 

    • Bouazza, Naïm & Tréluyer, Jean-Marc & Ottolenghi, Chris & Urien, Saïk & Deschenes, Georges & Ricquier, Daniel & Niaudet, Patrick & Chadefaux-Vekemans, Bernadette. (2011). Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients.Orphanet journal of rare diseases. 6. 86. 10.1186/1750-1172-6-86.
      Download full article (PDF, extern link)

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