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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 Genzyme Medical Affairs personnel. Additional resources on these topics are available and should be investigated.

Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Epidemiology of mucopolysaccharidoses.
Mol Genet Metab. 2017; 121(3):227–240.

Viskochil D, Muenzer J, Guffon N, et al. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.
Dev Med Child Neurol. 2017, September [Epub ahead of print].

Arn P, Bruce IA, Wraith JE, Travers H, Fallet S. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198-205. doi: 10.1177/0003489414550154. Epub 2014 Sep 11.

Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014 Oct;16(10):759-65. doi: 10.1038/gim.2014.25. Epub 2014 Mar 27.

Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis.
J Inherit Metab Dis. 2013; 36(2):201–110.

Walker R, Belani KG, Braulin EA et al. Anaesthesia and airway management in mucopolysaccharidosis.
J Inherit Metab Dis. 2013; 36: 211–219.

de Ru MH, Teunissen QGA, van der Lee JH, et al. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
Orphanet J Rare Dis. 2012; 7:22–30.

Arn P, Whitley C, Wraith JE, et al. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry.
J Pediatr Surg. 2012; 47(3):477–484.

Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses.
Rheumatology. 2011; 50(Suppl5):v19–v25.

Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
J Inherit Metab Dis. 2011; 34(6):1183–1197.

White KK. Orthopaedic aspects of mucopolysaccharidoses.
Rheumatology. 2011; 50 50(Suppl5):v26–v33.

Thomas JA, Beck M, Clarke JT, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.
J Inherit Metab Dis. 2010; 33:421–427.

Arn P, Wraith J, Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.
J Pediatr. 2009; 154:859–864 e3.

Polgreen LE, Tolar J, Plog M, Himes JH, Orchard PJ, Whitley CB, Miller BS, Petryk A. Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation.
Bone Marrow Transplant. 2008 Jun;41(12):1005-11. doi: 10.1038/bmt.2008.20. Epub 2008 Feb 18

Pastores G, Arn P, Beck M, 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; 91(1):37–47.

Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye.
Surv Ophthalmol. 2006; 51(1):1–17.

Vijay S, Wraith JE. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.
Acta Pediatr. 2005; 94(7):872–877.

Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP. Otorhinolaryngological manifestations of the mucopolysaccharidoses.
Int J Pediatr Otorhinolaryngol. 2005; 69(5):589–595.

Terlato NJ, Cox GF. Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature.
Genet Med. 2003; 5(4):286–294.

Neufeld EF, Muenzer J. 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.







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