The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

Orphanet Journal of Rare Diseases

Volumn 3, Issue 1, 2008, Pages

  Moore, David ^a   Connock, Martin J ^a   Wraith, Ed ^b   Lavery, Christine ^c  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c Society for Mucopolysaccharidosis Diseases (UK)   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; DEMOGRAPHY; HUMAN; HURLER SYNDROME; KAPLAN MEIER METHOD; MEDICAL SOCIETY; MORTALITY; PATHOPHYSIOLOGY; PHENOTYPE; PREVALENCE; REGISTER; UNITED KINGDOM;

ADOLESCENT; ADULT; CHILD; DEMOGRAPHY; ENGLAND; HUMANS; KAPLAN-MEIERS ESTIMATE; MUCOPOLYSACCHARIDOSIS I; PHENOTYPE; PREVALENCE; REGISTRIES; SOCIETIES, MEDICAL; WALES;

EID: 52949116848     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-3-24     Document Type: Article

References (20)

1. The mucopolysaccharidoses. EF Neufeld J Muenzer, The metabolic and molecular bases of inherited disease New York: McGraw-Hill, Scriver CR, Sly WS, 2000 3421 3452
2. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). JE Wraith M Beck R Lane PA van der E Shapiro Y Xue, Pediatrics 2007 120 e37 e46 10.1542/peds.2006-2156 17606547
3. The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease. M Connock AB Burls E Frew A Fry-Smith A Juarez-Garcia C McCabe, Health Technol Assess 2006 10 24
4. Commissioning for rare diseases: view from the frontline. A Burls D Austin D Moore, BMJ 2005 331 1019 1021 16254306 10.1136/bmj.331.7523.1019
5. Orphan drugs and the NHS: should we value rarity? C McCabe K Claxton A Tsuchiya, BMJ 2005 331 1016 1019 16254305 10.1136/bmj.331.7523.1016
6. Human Gene Mutation Database; Institute of Medical Genetics. Cardiff University. http://www.hgmd.cf.ac.uk/ac/index.php Ref Type: Electronic Citation
7. Government Actuary Department. http://www.gad.gov.uk/population/1998/ methodology/components.asp Ref Type: Electronic Citation
8. Relative frequency of the Hurler and Hunter syndromes. RB Lowry DH Renwick, New England Journal of Medicine 1971 284 221 222 4250044
9. An update on the frequency of mucopolysaccharide syndromes in British Columbia. RB Lowry DA Applegarth JR Toone E MacDonald NY Thunem, Human Genetics 1990 85 389 390 10.1007/BF00206770 2118475
10. Incidence of the mucopolysaccharidoses in Northern Ireland. J Nelson, Human Genetics 1997 101 355 358 10.1007/s004390050641 9439667
11. Incidence of the mucopolysaccharidoses in Western Australia. J Nelson J Crowhurst B Carey L Greed, American Journal of Medical Genetics 2003 123A 310 313 10.1002/ajmg.a.20314 14608657
12. The frequency of lysosomal storage diseases in The Netherlands. BJ Poorthuis RA Wevers WJ Kleijer JE Groener JG de Jong S Van Weely, Human Genetics 1999 105 151 156 10480370
13. Prevalence of lysosomal storage disorders. PJ Meikle JJ Hopwood AE Clague WF Carey, JAMA 1999 281 249 254 10.1001/jama.281.3.249 9918480
14. A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. AC Hutchesson S Bundey MA Preece SK Hall A Green, J Med Genet 1998 35 366 370 9610798
15. Cumulative incidence rates of the mucopolysaccharidoses in Germany. F Baehner C Schmiedeskamp F Krummenauer E Miebach M Bajbouj C Whybra, J Inherit Metab Dis 2005 28 1011 1017 10.1007/s10545-005-0112-z 16435194
16. Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. JJ Boelens RF Wynn A O'Meara P Veys Y Bertrand G Souillet, Bone Marrow Transplant 2007 40 225 233 10.1038/sj.bmt.1705718 17529997
17. National Institute for Health and Clinical Excellence: Appraising orphan drugs. http://www.nice.org.uk/aboutnice/whoweare/seniormanagementteam/ seniormanagementteammeetings/2005/12july2005/appraising_orphan_drugs.jsp Ref Type: Electronic Citation
18. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. GM Pastores P Arn M Beck JT Clarke N Guffon P Kaplan, Mol Genet Metab 2007 91 37 47 10.1016/j.ymgme.2007.01.011 17336562
19. The FDA and drug safety: a proposal for sweeping changes. CD Furberg AA Levin PA Gross RS Shapiro BL Strom, Arch Intern Med 2006 166 1938 1942 10.1001/archinte.166.18.1938 17030825
20. Society for Mucopolysaccharide diseases. http://www.mpssociety.co.uk/ Ref Type: Electronic Citation