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TITLE: Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
AUTHORS: Ineke Labrijn Marks; Galhana M Somers Bolman; Stijn In't M I Groen; Marianne Hoogeveen Westerveld; Marian A Kroos; Sirpa Ala Mello; Olga Amaral; Clara Sa Miranda; Irene Mavridou; Helen Michelakakis; Karin Naess; Frans W Verheijen; Lies H Hoefsloot; Trijnie Dijkhuizen; Marloes Benjamins; Hannerieke J M van den Hout; Ans T van der Ploeg; Pim W M P Pijnappel; Jasper J Saris; Dicky J Halley;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27, ISSUE: 6
INDEXED IN: Scopus WOS
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TITLE: Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease  Full Text
AUTHORS: Carla E M Hollak; Stephan vom Dahl; Johannes M F G Aerts; Nadia Belmatoug; Bruno Bembi; Yossi Cohen; Tanya Collin Histed; Patrick Deegan; Laura van Dussen; Pilar Giraldo; Eugen Mengel; Helen Michelakakis; Jeremy Manuel; Martin Hrebicek; Rosella Parini; Joerg Reinke; Maja di Rocco; Miguel Pocovi; Maria Clara S Sa Miranda ; Anna Tylki Szymanska; Ari Zimran; Timothy M Cox; ...More
PUBLISHED: 2010, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 44, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef