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Literaturverzeichnis

zum Beitrag „Seltene Erkrankungen, ein häufiges Problem – Eine Einführung“

von Professor Dr. Thomas Kühlein,

Bayerisches Ärzteblatt 11/2019, Seite 594 f.

1. Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet 2008; 371: 2039–41

2. Orphanet Website - Entry Point Deutschland. Online Zugriff am 5.10.2019 unter:

http://www.orpha.net/national/DE-DE/index/%C3%BCber-seltene-krankheiten/

3. Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. Online Zugriff am 5.10.2019 unter:

https://www.google.de/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&cad=rja&uact=

8&ved=2ahUKEwjD9beyjYLlAhXRKewKHXkUCV4QFjAAegQIAhAC&url=https%3A%

2F%2Fec.europa.eu%2Fhealth%2Fsites%2Fhealth%2Ffiles%2Ffiles%2Feudralex%2 Fvol-1%2Freg_2000_141_cons-2009-07%2Freg_2000_141_cons-2009-

07_en.pdf&usg=AOvVaw18s8jsYmSpiqe8CfptGXcl

4. Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen (NAMSE).

Online Zugriff am 5.10.2019 unter: https://www.namse.de/aktionsbuendnis-1 5. Aktionsplan für Menschen mit Seltenen Erkrankungen. Online Zugriff am 5.10.2019

unter: https://www.bmbf.de/de/nationaler-aktionsplan-fuer-menschen-mit-seltenen- erkrankungen-im-kabinett-626.html

6. Cardinali P, Migliorini L, Rania N. The Caregiving experiences of fathers and mothers of children with rare diseases in Italy: Challenges and social support perceptions.

Front. Psychol.2019;10:1780 doi: 10.3389/fpsyg.2019.01780 7. Amboss. Sammelsurium in der Pädiatrie.

https://www.amboss.com/de/wissen/Sammelsurium_der_P%C3%A4diatrie

8. Wiedemann HR, Kunze J. Wiedemanns Atlas klinischer Syndrome: Phänomenologie - Ätiologie – Differenzialdiagnose. 6. Aufl., Schattauer, Stuttgart 2009.

9. Jakob R. ICD-11 – Anpassung der ICD an das 21. Jahrhundert. Bundesgesundheitsbl 2018; 61: 771–777

10. Luzzatto L, Hyry HI, Schieppati A, Costa E, Simoens S et al. on behalf of the Second Workshop on Orphan Drugs participants. Outrageous prices of orphan drugs: a call for collaboration. Lancet 2018; 392: 791–94

11. Bruckenberger E. Die neue Dimension der Marktwirtschaft- Die

Krankenhauswirtschaft gerät immer mehr in das Spannungsfeld zwischen Ethik und Ökonomie. Dtsch Arztebl 2002; 99(5): A 261–264

12. Schmitt-Sausen N. Zentrum für unerkannte und seltene Erkrankungen - Letzte Hoffnung Marburg. Dtsch Arztebl 2017; 114(5): A218-A220

13. Patented Medicines Prices Review Board. Annual Report 2017. Online Zugriff am 5.10.109 unter: https://www.pmprb-cepmb.gc.ca/view.asp?ccid=1380&lang=en#a6 14. Jayasundara K, Hollis A, Krahn M, Mamdani M, Hoch JS, Grootendorst P. Orphanet Journal of Rare Diseases (2019) 14:12; https://doi.org/10.1186/s13023-018-0990-4 15. Onakpoya IJ, Spencer EA, Thompson MJ, Heneghan CJ. Effectiveness, safety and

costs of orphan drugs: an evidence-based review. BMJ Open 2015;5:e007199.

doi:10.1136/bmjopen-2014-007199

16. Luzzatto L, Hyry HI, Schieppati A, Costa E, Simoens S et al. on behalf of the Second Workshop on Orphan Drugs participants. Outrageous prices of orphan drugs: a call for collaboration. Lancet 2018; 392: 791–94

17. Moynihan R, Brodersen J, Heath I, Johannson M, Kuehlein T et al. Reforming

disease definitions: a new primary care led, people-centred approach. BMJ Evidence- Based Medicine2019;24:170–173.

18. Kühlein T, Freund T, Joos S. Von der Kunst des Weglassens. Dtsch Arztebl 2013;

110(48): A 2312–4

19. Del Mar C, Doust J, Galziou P. Clinical thinking. BMJ Books, Blackwell Publishing, Victoria 2006

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