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Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis

Objective Homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein thr...

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Detalles Bibliográficos
Autores principales: ESLAMIYEH, Hossein, ASHRAFZADEH, Farah, AKHONDIAN, Javad, BEIRAGHI TOOSI, Mehran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515342/
https://www.ncbi.nlm.nih.gov/pubmed/26221164