Article
Atypical presentation of late-onset Sandhoff disease: a case report.
Ideggyogyaszati szemle - 30 Nov 2021
Salamon András, Szpisjak László, Zádori Dénes, Lénárt István, Maróti Zoltán, Kalmár Tibor, Brierley Charlotte M H, Deegan Patrick B, Klivényi Péter
Abstract excerpt
BACKGROUND AND PURPOSE: Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme....
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