Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis
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چکیده
منابع مشابه
Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.
The GM2 gangliosidosis are a group of metabolic disorders in which deficiency of a lysosomal enzyme, hexosaminidase A (Hex A), leads to an abnormal intracellular accumulation of lipids in neurons and glia. Total deficiency is responsible for a fatal infantile disorder, Tay-Sachs disease, characterized by involution in motor abilities, hypotonia, seizures and cortical blindness, with death aroun...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2009
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2009000100024