Epidemiologic challenges in rare diseases;Epidemiologische herausforderungen bei seltenen krankheiten

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz

Volumn 51, Issue 5, 2008, Pages 483-490

  Ruckinger S ^a   Boneberger, A ^a  

^a UNIVERSITY OF MUNICH   (Germany)

Author keywords

Capture recapture; Epidemiology; Orphan disease; Surveillance

Indexed keywords

EPIDEMIOLOGY; HEALTH SURVEY; HUMAN; METHODOLOGY; PREVALENCE; RARE DISEASE; REVIEW; RISK ASSESSMENT; RISK FACTOR; STATISTICAL ANALYSIS;

DATA INTERPRETATION, STATISTICAL; EPIDEMIOLOGIC RESEARCH DESIGN; HUMANS; POPULATION SURVEILLANCE; PREVALENCE; RARE DISEASES; RISK ASSESSMENT; RISK FACTORS;

EID: 44049089705     PISSN: 14369990     EISSN: 14371588     Source Type: Journal    
DOI: 10.1007/s00103-008-0533-6     Document Type: Review

References (25)

1. Artikel 3 der Verordnung (EG) Nr. 141/2000 des Europäischen Parlaments und des Rates über Arzneimittel für seltene Leiden (1999)
2. Flyer des Bundesministeriums für Bildung und Forschung (2006) Seltene Erkrankungen - aber Millionen Patienten
3. Liebl B, et al. (2001) Abschlussbericht zum Modellprojekt zur Neuordnung des Neugeborenen-Screenings in Bayern. Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit
4. Nennstiel-Ratzel U, Liebl B (2006) Neugeborenen-Screening in Bayern - Bericht Nr. 10: Ergebnisse und Empfehlungen. Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit
5. Edmonds LD et al. (1981) Congenital malformations surveillance: two American systems. Int J Epidemiol 10(3):247-252
6. Eurocat report 8 (2002) Surveillance of congenital anomalies in Europe 1980-1999. Eurocat central registry. University of Ulster, Northern Ireland
7. Queisser-Luft A, Spranger J (2006) Fehlbildungen bei Neugeborenen. Ärzteblatt 103(38):A-2464/B-2136/C-2060
8. von Kries R, Heinrich B, Hermann M (2001) Pädiatrische Epidemiologie in Deutschland: Forschungsinstrument ESPED (Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland). Monatszeitschrift Kinderheilkd 149:1191-1197
9. Faensen D, et al. (2006) SurvNet@RKI - a multistate electronic reporting system for communicable diseases. Euro Surveill 11(4):100-103
10. Busch A, Siedler A (2007) Zuverlässigkeit des IfSG-Meldesystems geschätzt mittels Capture-Recapture-Verfahren. Epi Bull 26:233-235
11. Baker SG (1990) A simple EM algorithm for capture-recapture data with categorical covariates. Biometrics 46(4):1193-1197, Discussion 1198-1200
12. Jarvis SN, et al. (2000) Children are not goldfish - mark/recapture techniques and their application to injury data. Inj Prev 6(1):46-50
13. Ward MM (2005) Estimating rare disease prevalence from administrative hospitalization databases. Epidemiology 16(2):270-271
14. Broders AC (1920) Squamous-cell epithelioma of the lip. A study of five hundred and thirty-seven cases. J Am Med Assoc 74:656-664
15. Cornfield J (1951) A Method of estimating comparative rates from clinical data. Applications to cancer of the lung, breast, and cervix. J Natl Cancer Inst 11:1269-1275
16. Breslow N (2005) Case control studies. In: Ahrens W, Pigeot I (Hrsg) Handbook of epidemiology. Springer, Berlin Heidelberg New York Tokyo
17. Cutler SJ, et al. (1974) Third National Cancer Survey - an overview of available information. J Natl Cancer Inst 53(6):1565-1575
18. Jäckel A, et al. (2001) Therapie des metastasierten malignen Uveamelanoms. Hautarzt 52(2):98-103
19. Stang A, et al. (2001) The possible role of radiofrequency radiation in the development of uveal melanoma. Epidemiology 12(1):7-12
20. Beutler E (2004) Enzyme replacement in Gaucher disease. PLoS Med 1(2):e21
21. Figueroa ML, et al. (1992) A less costly regimen of alglucerase to treat Gaucher's disease. N Engl J Med 327(23):1632-1636
22. Zimran A, et al. (1994) Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. Am J Med 97(1):3-13
23. de Fost M, et al. (2006) Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood 108(3):830-835
24. Zimran A, Elstein D, Beutler E (2006) Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood 108(3):802-803
25. Cornelissen M, et al. (1997) Prevention of vitamin K deficiency bleeding: efficacy of different multiple oral dose schedules of vitamin K. Eur J Pediatr 156(2):126-130