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.

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.

Arn P, et al. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198–205.

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.

Berger KI, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013 Mar;36(2):201–310.

Walker R, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013 Mar;36(2):211–219.

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.

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.

Morishita K, et al. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011 Dec;50(Suppl5):v19–v25.

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

White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology. 2011 Dec;50(Suppl 5):v26–v33.

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.

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.

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.

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.

Ashworth JL, et al.. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006 Jan-Feb;51(1):1–17.

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.

Simmons MA, et al. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):589–595.

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.

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.