Das Auge als Fenster zur Cystinose

• Literatur

• 1 Elmonem MA, Veys KR, Soliman NA. et al. Cystinosis: a review. Orphanet J Rare Dis 2016; 11: 47
• 2 Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol 2013; 28: 51-59
• 3 Haffner D, Weinfurth A, Manz F. et al. Long-term outcome of paediatric patients with hereditary tubular disorders. Nephron 1999; 83: 250-260
• 4 Gahl WA, Kuehl EM, Iwata F. et al. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab 2000; 71: 100-120
• 5 Besouw M, Blom H, Tangerman A. et al. The origin of halitosis in cystinotic patients due to cysteamine treatment. Mol Genet Metab 2007; 91: 228-233
• 6 Belldina EB, Huang MY, Schneider JA. et al. Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients. Br J Clin Pharmacol 2003; 56: 520-525
• 7 Keidel L, Hohenfellner K, Schworm B. et al. Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis. Br J Ophthalmol 2023; 107: 234-241
• 8 Besouw MT, Bowker R, Dutertre JP. et al. Cysteamine toxicity in patients with cystinosis. J Pediatr 2011; 159: 1004-1011