| Role of electron microscopy in the diagnosis of metabolic storage diseases affecting the nervous system of children. | |
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MedLine Citation:
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PMID: 9205999 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Metabolic storage diseases are among the most challenging diagnostic problems faced by clinicians and pathologists. There is considerable variation in the diagnostic approach to these diseases between different institutions and between different diagnosticians. Much of this variation arises from differences in the availability of and physician confidence in the diagnostic modalities employed to characterize these disorders. Recent advances in the biochemistry and molecular genetics of these diseases have produced some skepticism about the continued relevance of traditional morphologic techniques, including electron microscopy, in their diagnosis. It is the opinion of the authors that this concern is premature and that electron microscopy continues to play a vital role, particularly in the diagnosis of those entities that challenge the classic definitions of lysosomal storage diseases. The authors present a series of cases illustrating different situations where electron microscopy can provide timely, cost-effective, and accurate information in the workup of such diseases. |
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Authors:
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G W Mierau; D A Weeks |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ultrastructural pathology Volume: 21 ISSN: 0191-3123 ISO Abbreviation: Ultrastruct Pathol Publication Date: 1997 Jul-Aug |
Date Detail:
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Created Date: 1997-08-21 Completed Date: 1997-08-21 Revised Date: 2009-06-26 |
Medline Journal Info:
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Nlm Unique ID: 8002867 Medline TA: Ultrastruct Pathol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 345-54 Citation Subset: IM |
Affiliation:
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Department of Pathology, Children's Hospital, Denver, Colorado, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child, Preschool Female Humans Lysosomal Storage Diseases / diagnosis*, genetics Male Microscopy, Electron* Nervous System Diseases / diagnosis*, genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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