Year: 2005
Type: article
Study design: Case Report
Abstract: 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.
Source: PubMed
Authors: Fareena Bilwani, Nadir Ali Syed, Mohammed Usman, Mohammed Khurshid
Institutions: Aga Khan University, Aga Khan University Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4300027375