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A Case Report of Sandhoff Disease

Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epil...

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Detalles Bibliográficos
Autores principales:	Saouab, R., Mahi, M., Abilkacem, R., Boumdin, H., Chaouir, S., Agader, O., Amil, T., Hanine, A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer-Verlag 2010
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145082/ https://www.ncbi.nlm.nih.gov/pubmed/21153386 http://dx.doi.org/10.1007/s00062-010-0035-4

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