Translation of "lysosomal storage disease " (English → French) :
A lysosomal storage disease with clinical characteristics of psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration or strabismus. The disease is rare in the general population but is more prevalent among As
type I glycogen storagedisease [ von Gierke's disease | Gierke's disease | type 1 glycogenosis | glycogen storage disease I | hepatorenal glycogenosis ]
An extremely rare genetic glycogen storagedisease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal
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