Search Results - "Wisse, Patrick"

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    Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses by Ferraz, Maria J., Kallemeijn, Wouter W., Mirzaian, Mina, Herrera Moro, Daniela, Marques, Andre, Wisse, Patrick, Boot, Rolf G., Willems, Lianne I., Overkleeft, H.S., Aerts, J.M.

    Published in Biochimica et biophysica acta (01-05-2014)
    “…Gaucher disease (GD) and Fabry disease (FD) are two relatively common inherited glycosphingolipidoses caused by deficiencies in the lysosomal glycosidases…”
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    Journal Article
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    Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients by Smid, Bouwien E, Ferraz, Maria J, Verhoek, Marri, Mirzaian, Mina, Wisse, Patrick, Overkleeft, Herman S, Hollak, Carla E, Aerts, Johannes M

    Published in Orphanet journal of rare diseases (24-03-2016)
    “…We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and…”
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    Journal Article
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    Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders by Ferraz, Maria J., Marques, André R.A., Gaspar, Paulo, Mirzaian, Mina, van Roomen, Cindy, Ottenhoff, Roelof, Alfonso, Pilar, Irún, Pilar, Giraldo, Pilar, Wisse, Patrick, Sá Miranda, Clara, Overkleeft, Herman S., Aerts, Johannes M.

    Published in Molecular genetics and metabolism (01-02-2016)
    “…In lysosomal glycosphingolipid storage disorders, marked elevations in corresponding glycosphingoid bases (lyso-glycosphingolipids) have been reported, such as…”
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    Journal Article
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    Synthesis of a Panel of Carbon-13-Labelled (Glyco)Sphingolipids by Wisse, Patrick, Gold, Henrik, Mirzaian, Mina, Ferraz, Maria J., Lutteke, Ginger, van den Berg, Richard J. B. H. N., van den Elst, Hans, Lugtenburg, Johan, van der Marel, Gijsbert A., Aerts, Johannes M. F. G., Codée, Jeroen D. C., Overkleeft, Herman S.

    Published in European journal of organic chemistry (01-04-2015)
    “…The synthesis of a focussed library of sphingolipids differing in the number and position of 13C labels is described. The synthesised sphingolipids differ in…”
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