Search Results - "Aerts, JohannesM.F.G."

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis by Gaspar, Paulo, Kallemeijn, Wouter W., Strijland, Anneke, Scheij, Saskia, Van Eijk, Marco, Aten, Jan, Overkleeft, Herman S., Balreira, Andrea, Zunke, Friederike, Schwake, Michael, Sá Miranda, Clara, Aerts, JohannesM.F.G.

“…Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal…”
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Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention by Boot, Rolf G., Verhoek, Marri, de Fost, Maaike, Hollak, CarlaE.M., Maas, Mario, Bleijlevens, Boris, van Breemen, Marielle J., van Meurs, Marjan, Boven, Leonie A., Laman, Jon D., Moran, Mary Teresa, Cox, Timothy M., Aerts, JohannesM.F.G.

“…Gaucher disease is characterized by storage of glucosylceramide in lysosomes of tissue macrophages as the result of an autosomal recessively inherited…”
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