A Case Report of Sandhoff Disease
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چکیده
منابع مشابه
A Case Refort of Sandhoff Disease
Sandhoff disease is a rare autosomal recessive metabolic disease presenting bilateral optic atrophy and a cherry red spot in the macula. This case report presents the characteristics of a patient with Sandhoff disease as assessed by ophthalmic, neuroimaging, and laboratory procedures. Ophthalmologic examination revealed that the patient could not fixate her eyes on objects nor follow moving tar...
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ژورنال
عنوان ژورنال: Clinical Neuroradiology
سال: 2010
ISSN: 1869-1439,1869-1447
DOI: 10.1007/s00062-010-0035-4