14 / 17
Cystinose
Literatuurlijst
1.
BesouwMT, Van Dyck M, Cassiman D, Claes KJ, Levtchenko EN. Management dilemmas in pediatric nephrology: Cystinosis. Pediatr
Nephrol. 2015 Aug;30(8):1349-60.
2.
BesouwMT, Hulstijn-Dirkmaat GM, et al. Neurocognitive functioning in school-aged cystinosis patients. J Inherit Metab Dis. 2010
Dec;33(6):787-93.
3.
Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, et al. Nephropathic cystinosis: an international consensus document.
Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94.
4.
Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern
Med. 2007 Aug 21;147(4):242-50.
5.
Goodyer P. The history of cystinosis: lessons for clinical management. Int J Nephrol. 2011:929456.
6.
Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S. Hematopoietic stem cell gene therapy for the multisystemic
lysosomal storage disorder cystinosis. Mol Ther. 2013 Feb;21(2):433-44.
7.
Hendriks S.
Generieke zorgthema Huisartsgeneeskundige zorg. 2014.
8.
Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol. 2013 Jan;28(1):51-9.
9.
Syres K, Harrison F, et al. Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood.
2009 Sep 17;114(12):2542-52.
10. Trauner DA, et al. Neurological impairment in nephropatic cystinosis: motor coordination deficits. Pediatr Nephrol (2010) 25:2061-
2066.
11. Vajda I.
Visiedocument Concentratie en organisatie van zorg bij zeldzame aandoeningen. 2015.
12
12.
http://www.cystinose.nl13.
http://www.stofwisselingsziekten.nl/toon-ziekte/infantiele_cystinose/Websites