Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

Homocysteine is an amino acid that is toxic to vascular endothelial cells, and plasma elevations have been associated with venous thromboembolism. Severe hyperhomocysteinemia (>100 μmol/L) may result from mutations in the genes coding for enzymes in the trans-sulfuration or the folate/vitamin B(1...

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Detalles Bibliográficos
Autores principales: Awan, Zuhier, Aljenedil, Sumayah, Rosenblatt, David S, Cusson, Jean, Gilfix, Brian M, Genest, Jacques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266910/
https://www.ncbi.nlm.nih.gov/pubmed/25516723
http://dx.doi.org/10.1186/s12959-014-0030-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266910/
https://www.ncbi.nlm.nih.gov/pubmed/25516723
http://dx.doi.org/10.1186/s12959-014-0030-0

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