Global ETD Search
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Showing 1 to 1 of 1 for “"Glycogen storage disorder"”.
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Multimethodological approaches to tackle glycogen: therapeutic and modelling opportunities in Lafora disease
… universally prevail. Indeed, some neurological glycogen storage disorders manifest through the accumulation of aberrant glycogen into polyglucosan bodies (PGBs). These include Lafora disease (LD), a lethal myoclonus epilepsy, caused by loss-of-function mutations in either EPM2A or NHLRC1 genes …