Rare Haematology Resource Centre
Research to advance your knowledge
The Rare Haematology Resource Centre highlights the development of therapies for diseases in rare haematology. In addition, it focuses on the actual research to advance your knowledge. We will offer content comprising of a combination of selected articles from peer-reviewed journals, patient case reports and KOL interviews. This freely available resource center is editorially independent and hosted by the Journal Molecular Genetics and Metabolism. New content will be posted monthly on this platform. Please subscribe to our e-Alert to ensure that you stay up to date with recent scientific developments.
Elma Aflaki, Wendy Westbroek, Ellen Sidransky
Neuron, Volume 93, Issue 4, February 2017, Pages 737 - 746
Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed and Neal WeinrebOrphanet Journal of Rare Diseases 2017. Abstract Background The Disease Severity Scoring System (DS3) is a validated measure for evaluating...
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry
Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A. Grabowski, Edwin H. Kolodny, Julie L. Batista, Gerald F. Cox, Pramod K. Mistry
Molecular Genetics and Metabolism, In Press, Accepted Manuscript, Available online 6 December 2016, Available online 6 December 2016
Robert J. Desnick MD, PhD, Norman W. Barton MD, PhD, Scott Furbish PhD, Gregory A. Grabowski MD, Stefan Karlsson MD, PhD, Edwin H. Kolodny MD, Jeffrey A. Medin PhD, Gary J. Murray PhD, Pramod K. Mistry MD, PhD, Marc C. Patterson MD, Raphael Schiffmann MD, MHSc, Neal J Weinreb MD
Molecular Genetics and Metabolism, In Press, Corrected Proof, Available online 12 November 2016, Available online 12 November 2016