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beta glucosidase/asthenia

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ČlanciKlinička ispitivanjaPatenti
2 rezultatima

Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse.

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Prijava Registriraj se
Saposins A, B, C and D are derived from a common precursor, prosaposin (psap). The few patients with saposin C deficiency develop a Gaucher disease-like central nervous system (CNS) phenotype attributed to diminished glucosylceramide (GC) cleavage activity by acid beta-glucosidase (GCase). The in

Huge Splenomegaly with Pancytopenia Due to Gaucher's Disease in a 22 Years Old Woman.

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Prijava Registriraj se
Gaucher's disease is one of the important storage disorders. It belongs to the lysosomal storage disorders group. There is defective activity of an enzyme named β-glucosidase which ultimately renders the cell of macrophage lineage loaded with glucocerebrosides. There is multi-organ involvement that
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