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
Related Documents :
1563509 - Bronchoalveolar disease in dyskeratosis congenita.
7083669 - Familial arthrogryposis with distal involvement of the limbs.
12514369 - Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and r...
2848459 - Adenovirus infection in families.
11344199 - Nineteen years of national screening for congenital hypothyroidism: familial cases with...
8903069 - Severe nontyphoidal salmonellosis probably in relation with omeprazole treatment: repor...
4048889 - Spontaneous rupture of the diaphragm.
269939 - Fibrous dysplasia of the mandible and sphenoid bones: report of case.
11528279 - Inflammatory myositis: a rare differential diagnosis of a neck lump.
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
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


Previous Document:  Organophosphorus insecticide poisoning: management in surgical intensive care unit.
Next Document:  Spontaneous multivessel coronary artery dissection associated with elevated homocysteine levels.