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GM2 Gangliyosidoz

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GM1 Gangliyosidoz

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Nöronal Seroid Lipofuskinozis

The Neuronal Ceroid Lipofuscinosis Disorders (for health workers)   The neuronal ceroid lipofuscinosis (NCL) disorders are a group of genetically inherited lysosomal neurodegenerative diseases characterized by the intracellular accumulation of autofluorescent lipopigment storage material that leads to progressive neurologic degeneration in all age groups. The clinical course includes progressive cognitive failure (dementia, encephalopathy), seizures which […]

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Rett Sendromu