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Items: 1 to 20 of 68

1.

Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.

Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE; Mucopolysaccharidosis I Intrathecal Research Collaborative.

Data Brief. 2015 Aug 20;5:71-6. doi: 10.1016/j.dib.2015.08.004. eCollection 2015 Dec.

2.

Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.

Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE; Mucopolysaccharidosis I Intrathecal Research Collaborative.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):69-74. doi: 10.1016/j.ymgme.2015.07.005. Epub 2015 Jul 26.

3.

Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.

Aldenhoven M, Jones SA, Bonney D, Borrill RE, Coussons M, Mercer J, Bierings MB, Versluys B, van Hasselt PM, Wijburg FA, van der Ploeg AT, Wynn RF, Boelens JJ.

Biol Blood Marrow Transplant. 2015 Jun;21(6):1106-9. doi: 10.1016/j.bbmt.2015.02.011. Epub 2015 Feb 20.

4.

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.

Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ.

Blood. 2015 Mar 26;125(13):2164-72. doi: 10.1182/blood-2014-11-608075. Epub 2015 Jan 26.

5.

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ.

Mol Genet Metab. 2013 Aug;109(4):377-81. doi: 10.1016/j.ymgme.2013.05.016. Epub 2013 Jun 4.

PMID:
23786846
6.

Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome.

Eisengart JB, Rudser KD, Tolar J, Orchard PJ, Kivisto T, Ziegler RS, Whitley CB, Shapiro EG.

J Pediatr. 2013 Feb;162(2):375-80.e1. doi: 10.1016/j.jpeds.2012.07.052. Epub 2012 Sep 10.

7.

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

D'Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, Okuyama T, Wijburg F, Kaplan P.

Eur J Pediatr. 2012 Jun;171(6):911-9. doi: 10.1007/s00431-011-1644-x. Epub 2012 Jan 11.

8.

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R.

Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10.

PMID:
21394825
9.

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
10.

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.

11.

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
12.

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
13.

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
14.

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
15.

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
16.

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
17.

Pre-transplant risk factors affecting outcome in Hurler syndrome.

Orchard PJ, Milla C, Braunlin E, DeFor T, Bjoraker K, Blazar BR, Peters C, Wagner J, Tolar J.

Bone Marrow Transplant. 2010 Jul;45(7):1239-46. doi: 10.1038/bmt.2009.319. Epub 2009 Nov 9.

PMID:
19898501
18.

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.

PMID:
19783188
19.

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.

20.

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.

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