| Hurler syndrome with special reference to histologic abnormalities of the growth plate. | |
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MedLine Citation:
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PMID: 1907534 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hurler syndrome is a mucopolysaccharide disorder resulting from an heritable deficiency in alpha-L-iduronidase, an enzyme required in the catabolism of heparan sulfate and dermatan sulfate glycosaminoglycan (GAGs). The resultant intracellular accumulation of GAG leads to disruption of the intracellular and extracellular environment and dysfunction of multiple organ systems. Among the most noted manifestations of this disease is disproportionate short trunk dwarfism, which develops during the first years of life. Histochemical and electron-microscopic observations on a 30-month-old child with Hurler syndrome showed marked irregularities in chondrocyte orientation within the growth plate, along with disruption of the normal columnar architecture. Vacuolization with enlargement of the cellular border was the characteristic ultrastructural finding. An heritable abnormality in the enzymatic degradation of structural glycosaminoglycans leads to profound disruption of the normal mechanisms of growth and development. |
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Authors:
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C P Silveri; F S Kaplan; M D Fallon; E Bayever; C S August |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Clinical orthopaedics and related research Volume: - ISSN: 0009-921X ISO Abbreviation: Clin. Orthop. Relat. Res. Publication Date: 1991 Aug |
Date Detail:
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Created Date: 1991-09-09 Completed Date: 1991-09-09 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0075674 Medline TA: Clin Orthop Relat Res Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 305-11 Citation Subset: AIM; IM |
Affiliation:
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University of Pennsylvania School of Medicine, Philadelphia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cartilage
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cytology Female Growth Plate / cytology, pathology*, ultrastructure Humans Infant Mucopolysaccharidosis I / pathology* |
| Grant Support | |
ID/Acronym/Agency:
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RR00240/RR/NCRR NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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