A Case Report of Homocystinuria With Dystonia and Stroke

Inherited homocystinuria is a rare autosomal recessive aminoacidopathy which through early diagnosis can prevent its severe neurologic and vascular complications. Here we report a 9-year-old girl with homocystinuria, presenting with sequential symptoms of bilateral lens dislocation, skeletal complic...

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Detalles Bibliográficos
Autores principales: Rezazadeh, Arezoo, Oveisgharan, Shahram, Shahidi, Gholamali, Naghdi, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417037/
https://www.ncbi.nlm.nih.gov/pubmed/28503581
http://dx.doi.org/10.1177/2329048X14545870

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417037/
https://www.ncbi.nlm.nih.gov/pubmed/28503581
http://dx.doi.org/10.1177/2329048X14545870

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