Mucopolysaccharidosis Type I - Practice Guidelines & Helpful Articles

Practice Guidelines

Muenzer J, Wraith JE, Clarke LA.
Mucopolysaccharidosis I: management and treatment guidelines.
Pediatrics. 2009;123(1):19-29. PubMed abstract

Helpful Articles

PubMed search on Mucopolysaccharidosis Type I

Clarke LA, Heppner J.
Mucopolysaccharidosis Type I.
(2002) http://www.ncbi.nlm.nih.gov/books/NBK1162/.
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity.

Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman M, Kakkis ED, Cox GF.
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.
Pediatrics. 2009;123(1):229-40. PubMed abstract

Gassas A, Sung L, Doyle JJ, Clarke JT, Saunders EF.
Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature.
Bone Marrow Transplant. 2003;32(2):213-5. PubMed abstract

Grewal SS, Wynn R, Abdenur JE, Burton BK, Gharib M, Haase C, Hayashi RJ, Shenoy S, Sillence D, Tiller GE, Dudek ME, van Royen-Kerkhof A, Wraith JE, Woodard P, Young GA, Wulffraat N, Whitley CB, Peters C.
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome.
Genet Med. 2005;7(2):143-6. PubMed abstract

Moore D, Connock MJ, Wraith E, Lavery C.
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.
Orphanet J Rare Dis. 2008;3:24. PubMed abstract / Full Text

Muenzer J.
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
J Pediatr. 2004;144(5 Suppl):S27-34. PubMed abstract

Muenzer J, Fisher A.
Advances in the treatment of mucopolysaccharidosis type I.
N Engl J Med. 2004;350(19):1932-4. PubMed abstract

Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B ed.
The mucopolysaccharidoses. In The Metabolic and Molecular Basis of Inherited Disease.
8th ed ed. New York: McGraw-Hill, Medical Publishing Division; 2001. 0071163360 http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=om...

Souillet G, Guffon N, Maire I, Pujol M, Taylor P, Sevin F, Bleyzac N, Mulier C, Durin A, Kebaili K, Galambrun C, Bertrand Y, Froissart R, Dorche C, Gebuhrer L, Garin C, Berard J, Guibaud P.
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources.
Bone Marrow Transplant. 2003;31(12):1105-17. PubMed abstract

Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, Hopwood JJ, Krivit W, Kurtzberg J.
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.
N Engl J Med. 2004;350(19):1960-9. PubMed abstract
Review of bone marrow transplant as a treatment option in individuals with Hurler syndrome.

Tylki-Szymanska A, Marucha J, Jurecka A, Syczewska M, Czartoryska B.
Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.
J Inherit Metab Dis. 2010;33(2):151-7. PubMed abstract / Full Text
Introduction of enzyme replacement therapy (ERT) led to slower progression of symptoms of patients with MPS I, especially in the passive range of motion in all patients.

Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S.
Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation.
J Pediatr Orthop. 2004;24(1):97-101. PubMed abstract

Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA.
Laronidase treatment of mucopolysaccharidosis I.
BioDrugs. 2005;19(1):1-7. PubMed abstract
Review of enzyme replacement therapy as a treatment option in MPS I.

Wraith JE.
The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.
Expert Opin Pharmacother. 2005;6(3):489-506. PubMed abstract

Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF.
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
J Pediatr. 2004;144(5):581-8. PubMed abstract

Wynn RF, Mercer J, Page J, Carr TF, Jones S, Wraith JE.
Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients.
J Pediatr. 2009;154(1):135-9. PubMed abstract