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Results: 1 to 20 of 68

1.

Effect of 6 years of enzyme replacement therapy on plasma and urine glycosaminoglycans in attenuated MPS I patients.

Coppa GV, Buzzega D, Zampini L, Maccari F, Galeazzi T, Pederzoli F, Gabrielli O, Volpi N.

Glycobiology. 2010 Oct;20(10):1259-73. doi: 10.1093/glycob/cwq088. Epub 2010 Jun 9.

PMID:
20538645
[PubMed - indexed for MEDLINE]
Free Article
2.

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.

Thomas JA, Beck M, Clarke JT, Cox GF.

J Inherit Metab Dis. 2010 Aug;33(4):421-7. doi: 10.1007/s10545-010-9113-7. Epub 2010 Jun 2.

PMID:
20532982
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mucopolysaccharidosis Type I.

Clarke LA, Heppner J.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2002 Oct 31 [updated 2011 Jul 21].

PMID:
20301341
[PubMed]
Books & Documents
4.

Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.

Tylki-Szymanska A, Marucha J, Jurecka A, Syczewska M, Czartoryska B.

J Inherit Metab Dis. 2010 Apr;33(2):151-7. doi: 10.1007/s10545-010-9059-9. Epub 2010 Mar 9.

PMID:
20217237
[PubMed - indexed for MEDLINE]
5.

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.

Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Sakura N, Barrera L, Kida K, Kubota M, Orii T.

J Inherit Metab Dis. 2010 Apr;33(2):141-50. doi: 10.1007/s10545-009-9036-3. Epub 2010 Feb 17.

PMID:
20162367
[PubMed - indexed for MEDLINE]
6.

Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase.

Valayannopoulos V, Boddaert N, Barbier V, Le Merrer M, Caillaud C, de Lonlay P.

Mol Genet Metab. 2010 May;100(1):20-3. doi: 10.1016/j.ymgme.2009.12.019. Epub 2010 Jan 4.

PMID:
20106688
[PubMed - indexed for MEDLINE]
7.

Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence.

Bahadir C, Kurtulus D, Cihandide E.

J Clin Rheumatol. 2009 Dec;15(8):402-4. doi: 10.1097/RHU.0b013e3181bedf12.

PMID:
19955999
[PubMed - indexed for MEDLINE]
8.

Lumbar gibbus: early presentation of dysostosis multiplex.

Mundada V, D'Souza N.

Arch Dis Child. 2009 Dec;94(12):930-1. doi: 10.1136/adc.2009.158014. No abstract available. Erratum in: Arch Dis Child. 2010 May;95(5):401.

PMID:
19933601
[PubMed - indexed for MEDLINE]
9.

Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions.

Prasad VK, Kurtzberg J.

Br J Haematol. 2010 Feb;148(3):356-72. doi: 10.1111/j.1365-2141.2009.07974.x. Epub 2009 Nov 16. Review.

PMID:
19919654
[PubMed - indexed for MEDLINE]
10.

Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase).

Tylki-Szymanska A, Rozdzynska A, Jurecka A, Marucha J, Czartoryska B.

Mol Genet Metab. 2010 Jan;99(1):10-7. doi: 10.1016/j.ymgme.2009.08.008. Epub .

PMID:
19783188
[PubMed - indexed for MEDLINE]
11.

Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.

Kaidonis X, Liaw WC, Roberts AD, Ly M, Anson D, Byers S.

Eur J Hum Genet. 2010 Feb;18(2):194-9. doi: 10.1038/ejhg.2009.143. Epub 2009 Aug 19.

PMID:
19690583
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L.

Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812.

PMID:
19396826
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.

Arn P, Wraith JE, Underhill L.

J Pediatr. 2009 Jun;154(6):859-64.e3. doi: 10.1016/j.jpeds.2008.12.024. Epub 2009 Feb 12.

PMID:
19217123
[PubMed - indexed for MEDLINE]
14.

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman M, Kakkis ED, Cox GF.

Pediatrics. 2009 Jan;123(1):229-40. doi: 10.1542/peds.2007-3847.

PMID:
19117887
[PubMed - indexed for MEDLINE]
Free Article
15.

Mucopolysaccharidosis I: management and treatment guidelines.

Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I.

Pediatrics. 2009 Jan;123(1):19-29. doi: 10.1542/peds.2008-0416.

PMID:
19117856
[PubMed - indexed for MEDLINE]
Free Article
16.

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.

Moore D, Connock MJ, Wraith E, Lavery C.

Orphanet J Rare Dis. 2008 Sep 16;3:24. doi: 10.1186/1750-1172-3-24.

PMID:
18796143
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.

Munoz-Rojas MV, Vieira T, Costa R, Fagondes S, John A, Jardim LB, Vedolin LM, Raymundo M, Dickson PI, Kakkis E, Giugliani R.

Am J Med Genet A. 2008 Oct 1;146A(19):2538-44. doi: 10.1002/ajmg.a.32294.

PMID:
18792977
[PubMed - indexed for MEDLINE]
18.

Mobility in Hurler syndrome.

Taylor C, Brady P, O'Meara A, Moore D, Dowling F, Fogarty E.

J Pediatr Orthop. 2008 Mar;28(2):163-8. doi: 10.1097/BPO.0b013e3181649e25.

PMID:
18388709
[PubMed - indexed for MEDLINE]
19.

Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.

Tolar J, Grewal SS, Bjoraker KJ, Whitley CB, Shapiro EG, Charnas L, Orchard PJ.

Bone Marrow Transplant. 2008 Mar;41(6):531-5. Epub 2007 Nov 26.

PMID:
18037941
[PubMed - indexed for MEDLINE]
20.

Pre-stem cell transplantation enzyme replacement therapy in Hurler syndrome does not lead to significant antibody formation or delayed recovery of the endogenous enzyme post-transplant: a case report.

Soni S, Hente M, Breslin N, Hersh J, Whitley C, Cheerva A, Bertolone S.

Pediatr Transplant. 2007 Aug;11(5):563-7.

PMID:
17631030
[PubMed - indexed for MEDLINE]

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