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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Assessment of cellular cobalamin metabolism in Gaucher disease

Fig. 1

α- and β-glucosidase activity in healthy human controls, Gaucher disease patients and an asymptomatic carrier of GD. a Gaucher patients (n = 3) had no detectable activity of β-glucosidase (nmol/mLxh), whereas the asymptomatic carrier of GD (n = 1) exhibited β-glucosidase activity comparable to those of human controls (n = 3); b All examined subjects presented comparable α-glucosidase activity (nmol/mLxh), suggesting preserved activity of lysosomal components not associated with the GBA1 mutation. Legend: without HOCbl – culture medium without hydroxocobalamin; with HOCbl – culture medium with hydroxocobalamin, GD – Gaucher disease, RecNciI/− − asymptomatic carrier of GD

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