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Homocystinuria presenting as a calcified right atrial mass

Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous thromboembolic phenomena. We present a case of homocy...

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Detalles Bibliográficos
Autores principales: Shera, Tahleel Altaf, Choh, Naseer Ahmed, Shera, Faiz Altaf, Khan, Azher Maqbool
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963241/
https://www.ncbi.nlm.nih.gov/pubmed/29922024
http://dx.doi.org/10.4103/apc.APC_174_17