Document Detail


Familial homocystinuria.
MedLine Citation:
PMID:  15730839     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Fareena Bilwani; Nadir Ali Syed; Mohammed Usman; Mohammed Khurshid
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
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:
Created Date:  2005-02-25     Completed Date:  2005-05-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9606447     Medline TA:  J Coll Physicians Surg Pak     Country:  Pakistan    
Other Details:
Languages:  eng     Pagination:  106-7     Citation Subset:  IM    
Affiliation:
Department of Pathology, The Aga Khan University Hospital, Karachi, Pakistan.
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MeSH Terms
Descriptor/Qualifier:
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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