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Homocystinuria with Stroke and Positive Familial History

Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities. This autosomal recessive disorder leads to accumulation of homocysteine and its metabolites in th...

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Detalles Bibliográficos
Autores principales: Mazaheri, Ali, Mostofizadeh, Neda, Hashemipour, Mahin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674651/
https://www.ncbi.nlm.nih.gov/pubmed/29279830
http://dx.doi.org/10.4103/2277-9175.217215