| Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. | |
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MedLine Citation:
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PMID: 17089217 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Enzyme replacement therapy (ERT) with laronidase, recombinant alpha-L-iduronidase, for mucopolysaccharidosis type I (MPS I) has been clinically available since April 2003. Pre-approval studies were performed on patients with the more attenuated forms of MPS I, Hurler-Scheie and Scheie syndromes. The clinical efficacy of laronidase on the severe form of MPS I, Hurler syndrome, is not well known. We present a patient with Hurler syndrome who has been treated with laronidase for 3 years. Clinically, the patient demonstrated improvement in urinary glycosaminoglycan (GAG) levels and hepatomegaly, but continued to experience decline in respiratory status, musculoskeletal and spinal involvement, and developmental skills. Overall, the benefit of ERT with laronidase in advanced Hurler syndrome appeared to be minimal in this patient. |
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Authors:
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J A Thomas; S Jacobs; J Kierstein; J Van Hove |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2006-11-06 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 29 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2006 Dec |
Date Detail:
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Created Date: 2006-11-19 Completed Date: 2007-01-08 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 762 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA. thomas.janet@tchden.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Disease Progression Glycosaminoglycans / urine Humans Iduronidase / therapeutic use* Mucopolysaccharidosis I / drug therapy* Time Factors Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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0/Glycosaminoglycans; EC 3.2.1.76/Iduronidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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