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Tamar H. Taddei et al.
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Cesar A. Sommer et al.
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M. de Fost et al.
ANNALS OF HEMATOLOGY (2008)
Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase
Jin-Song Shen et al.
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In-Hyun Park et al.
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Junying Yu et al.
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Richard A. Steet et al.
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Maaike de Fost et al.
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M van Eijk et al.
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ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
I Ron et al.
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M Jmoudiak et al.
BRITISH JOURNAL OF HAEMATOLOGY (2005)
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E Sidransky
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Effect of enzyme replacement therapy on gammopathies in Gaucher disease
A Brautbar et al.
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K Hodanová et al.
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RA Dwek et al.
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