| Familial homocystinuria. | |
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MedLine Citation:
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PMID: 15730839 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye. Brother had history of psychomotor retardation while sister had a significant history of deep vein thrombosis. Levels of plasma homocysteine were elevated and urinary homocysteine was positive in both the cases. |
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Authors:
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Fareena Bilwani; Nadir Ali Syed; Mohammed Usman; Mohammed Khurshid |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP Volume: 15 ISSN: 1022-386X ISO Abbreviation: J Coll Physicians Surg Pak Publication Date: 2005 Feb |
Date Detail:
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Created Date: 2005-02-25 Completed Date: 2005-05-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9606447 Medline TA: J Coll Physicians Surg Pak Country: Pakistan |
Other Details:
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Languages: eng Pagination: 106-7 Citation Subset: IM |
Affiliation:
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Department of Pathology, The Aga Khan University Hospital, Karachi, Pakistan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Consanguinity Female Homocystinuria / genetics* Humans Lens Subluxation / genetics Male Mental Retardation / genetics Venous Thrombosis / genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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