| Tay Sachs disease: an autopsy case report. | |
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MedLine Citation:
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PMID: 16366100 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons. |
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Authors:
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Meenal Vitthal Jadhav; Meenal P Landge; Satyakam K Sawaimoon; Arun B Harke; Sanjay D Deshmukh |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Indian journal of pathology & microbiology Volume: 48 ISSN: 0377-4929 ISO Abbreviation: Indian J Pathol Microbiol Publication Date: 2005 Oct |
Date Detail:
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Created Date: 2005-12-21 Completed Date: 2006-01-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7605904 Medline TA: Indian J Pathol Microbiol Country: India |
Other Details:
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Languages: eng Pagination: 479-80 Citation Subset: IM |
Affiliation:
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Department of Pathology, B. I. Medical College, Pune. drvhjadhav@hotmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Autopsy Brain / pathology Child, Preschool Diagnosis, Differential Humans India Male Tay-Sachs Disease / diagnosis, pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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