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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.


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.
https://www.ncbi.nlm.nih.gov/pubmed/28595941


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].
https://www.ncbi.nlm.nih.gov/m/pubmed/28892147


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.
https://www.ncbi.nlm.nih.gov/pubmed/25214650


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.
https://www.ncbi.nlm.nih.gov/pubmed/24675674


Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis.
J Inherit Metab Dis. 2013; 36(2):201–110.
https://www.ncbi.nlm.nih.gov/pubmed/23151682


Walker R, Belani KG, Braulin EA et al. Anaesthesia and airway management in mucopolysaccharidosis.
J Inherit Metab Dis. 2013; 36: 211–219.
https://www.ncbi.nlm.nih.gov/pubmed/23197104


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.
https://www.ncbi.nlm.nih.gov/pubmed/22524701


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.
https://www.ncbi.nlm.nih.gov/pubmed/22424341


Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses.
Rheumatology. 2011; 50(Suppl5):v19–v25.
https://www.ncbi.nlm.nih.gov/pubmed/22210666


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.
https://www.ncbi.nlm.nih.gov/pubmed/21744090


White KK. Orthopaedic aspects of mucopolysaccharidoses.
Rheumatology. 2011; 50 50(Suppl5):v26–v33.
https://www.ncbi.nlm.nih.gov/pubmed/22210667


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.
https://www.ncbi.nlm.nih.gov/pubmed/20532982


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.
https://www.ncbi.nlm.nih.gov/pubmed/19217123


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
https://www.ncbi.nlm.nih.gov/pubmed/18278070


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.
https://www.ncbi.nlm.nih.gov/pubmed/17336562


Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye.
Surv Ophthalmol. 2006; 51(1):1–17.
https://www.ncbi.nlm.nih.gov/pubmed/16414358


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.
https://www.ncbi.nlm.nih.gov/pubmed/16188808


Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP. Otorhinolaryngological manifestations of the mucopolysaccharidoses.
Int J Pediatr Otorhinolaryngol. 2005; 69(5):589–595.
https://www.ncbi.nlm.nih.gov/pubmed/15850680


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.
https://www.ncbi.nlm.nih.gov/pubmed/12865757


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.


 

 

 

 

 

SGUSMA.XLSD.18.07.0421a

SGUSMA.XLSD.18.07.0421b

Last Updated: Feb 27, 2019