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Journal of the Korean Neurological Association ; : 382-385, 2005.
Artigo em Coreano | WPRIM | ID: wpr-201279

RESUMO

Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease. Hyperhomocysteinemia can be caused by the defect of the remethylation pathway including the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene or the transsulfuration pathway including the cystathionine beta-synthase (CBS) gene of homocysteine metabolism. The major cause of severe hyperhomocysteinemia is CBS gene mutation. A 16-year-old male was admitted with vertigo. Brain MRI showed right cerebellar infarction. The plasma homocysteine level was 175 mocro mol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes.


Assuntos
Adolescente , Humanos , Masculino , Encéfalo , Cistationina beta-Sintase , Genótipo , Homocisteína , Hiper-Homocisteinemia , Infarto , Imageamento por Ressonância Magnética , Metabolismo , Oxirredutases , Plasma , Fatores de Risco , Acidente Vascular Cerebral , Vertigem
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