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B. J. M. H. Poorthuis
Publications - 1
Citations - 85
B. J. M. H. Poorthuis is an academic researcher. The author has contributed to research in topics: Prosaposin & Glucocerebrosidase. The author has an hindex of 1, co-authored 1 publications receiving 75 citations.
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Non-neuronopathic Gaucher disease due to saposin C deficiency
Anna Tylki-Szymańska,Barbara Czartoryska,Marie T. Vanier,B. J. M. H. Poorthuis,J. A. E. Groener,Agnieszka Ługowska,Gilles Millat,Anna Maria Vaccaro,Elżbieta Jurkiewicz +8 more
TL;DR: The presented findings describe the first cases where the non‐neuronopathic Gaucher disease has been definitely demonstrated to be a consequence of SAP‐C deficiency.