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TITLE: Impact of age at onset and newborn screening on outcome in organic acidurias  Full Text
AUTHORS: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Baric; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda C I Cortes I Saladelafont; Daniela Karall; Chris Muehlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Koelker;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 3
INDEXED IN: WOS CrossRef
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TITLE: Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document  Full Text
AUTHORS: Marieke Biegstraaten; Reynir Arngrimsson; Frederic Barbey; Lut Boks; Franco Cecchi; Patrick B Deegan; Ulla Feldt Rasmussen; Tarekegn Geberhiwot; Dominique P Germain; Chris Hendriksz; Derralynn A Hughes; Ilkka Kantola; Nesrin Karabul; Christine Lavery; Gabor E Linthorst; Atul Mehta; Erica van de Mheen; Oliveira, JP ; Rossella Parini; Uma Ramaswami; Michael Rudnicki; Andreas Serra; Claudia Sommer; Gere Sunder Plassmann; Einar Svarstad; Annelies Sweeb; Wim Terryn; Anna Tylki Szymanska; Camilla Tondel; Bojan Vujkovac; Frank Weidemann; Frits A Wijburg; Peter Woolfson; Carla E M Hollak; ...More
PUBLISHED: 2015, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 171