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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience
A. T. van der Ploeg et al.
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Esther Kuperus et al.
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Barry J. Byrne et al.
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Anna Chiara Nascimbeni et al.
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Francesca Gatto et al.
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The Perseus computational platform for comprehensive analysis of (prote)omics data
Stefka Tyanova et al.
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Jeong-A Lim et al.
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B. J. Ebbink et al.
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Suhrad G. Banugaria et al.
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Niek P. van Til et al.
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Gaelle Douillard-Guilloux et al.
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Marco Sardiello et al.
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Ans T. van der Ploeg et al.
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Jinhai Wang et al.
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Marcelo G. Binker et al.
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Serhiy Pankiv et al.
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Kassidy K. Huynh et al.
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Beth L. Thurberg et al.
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Tokiko Fukuda et al.
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FW Chen et al.
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A Bonen et al.
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I Guérin et al.
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A Hall et al.
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