Publications
This bibliography contains links to literature and PubMed abstracts on topics related to MPS I, including symptoms, comorbidities, and disease registry analyses.
These publications were chosen by Sanofi Medical Affairs personnel. Additional resources on these topics are available and should be investigated.
Khan SA, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017 Jul;121(3):227–240.
https://www.ncbi.nlm.nih.gov/pubmed/28595941
Viskochil D, et al. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Dev Med Child Neurol. 2017 Dec;59(12):1269–1275.
https://www.ncbi.nlm.nih.gov/m/pubmed/28892147
Arn P, et al. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198–205.
https://www.ncbi.nlm.nih.gov/pubmed/25214650
Beck M, et al.The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014 Oct;16(10):759–765.
https://www.ncbi.nlm.nih.gov/pubmed/24675674
Berger KI, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013 Mar;36(2):201–310.
https://www.ncbi.nlm.nih.gov/pubmed/23151682
Walker R, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013 Mar;36(2):211–219.
https://www.ncbi.nlm.nih.gov/pubmed/23197104
de Ru MH, et al. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis. 2012 Apr;7:22–30.
https://www.ncbi.nlm.nih.gov/pubmed/22524701
Arn P, et al. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. J Pediatr Surg. 2012 Mar;47(3):477–484.
https://www.ncbi.nlm.nih.gov/pubmed/22424341
Morishita K, et al. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011 Dec;50(Suppl5):v19–v25.
https://www.ncbi.nlm.nih.gov/pubmed/22210666
Braunlin EA, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011 Dec;34(6):1183–1197.
https://www.ncbi.nlm.nih.gov/pubmed/21744090
White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology. 2011 Dec;50(Suppl 5):v26–v33.
https://www.ncbi.nlm.nih.gov/pubmed/22210667
Thomas JA, et al. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.
J Inherit Metab Dis. 2010 Aug;33(4):421–427.
https://www.ncbi.nlm.nih.gov/pubmed/20532982
Arn P, et al. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J Pediatr. 2009 Jun;154(6):859–864.e3.
https://www.ncbi.nlm.nih.gov/pubmed/19217123
Polgreen LE, et al. Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation. Bone Marrow Transplant. 2008 Jun;41(12):1005–1011.
https://www.ncbi.nlm.nih.gov/pubmed/18278070
Pastores G, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab. 2007 May;91(1):37–47.
https://www.ncbi.nlm.nih.gov/pubmed/17336562
Ashworth JL, et al.. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006 Jan-Feb;51(1):1–17.
https://www.ncbi.nlm.nih.gov/pubmed/16414358
Vijay S, et al. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Pediatr. 2005 Jul;94(7):872–877.
https://www.ncbi.nlm.nih.gov/pubmed/16188808
Simmons MA, et al. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):589–595.
https://www.ncbi.nlm.nih.gov/pubmed/15850680
Terlato NJ, et al. Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature. Genet Med. 2003 Jul-Aug;5(4):286–294.
https://www.ncbi.nlm.nih.gov/pubmed/12865757
Neufeld EF, et al. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The mucopolysaccharidoses.
The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw Hill; 2001:3421–3452.
Next in MPS I