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Molecular Genetics and Metabolism|December 26, 2006
Cellular and tissue distribution of intravenously administered agalsidase alfaGary J Murray, Miriam R Anver, Maureen A Kennedy, et al.
Molecular Genetics and Metabolism|July 24, 2007
Establishment and characterization of Fabry disease endothelial cells with an extended lifespanJin-Song Shen, Xing-Li Meng, Raphael Schiffmann, et al.
Orphanet Journal of Rare Diseases|April 22, 2015
Pressure for drug development in lysosomal storage disorders - a quantitative analysis thirty years beyond the US orphan drug actKonstantin Mechler, William K Mountford, Georg F Hoffmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2015
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiencyKonstantin Mechler, William K Mountford, Georg F Hoffmann, et al.
Onkologie|March 15, 2013
Single-source tumor documentation - reusing oncology data for different purposesMarkus Ries, Hans-Ulrich Prokosch, Matthias W Beckmann, et al.
International Journal of Methods in Psychiatric Research|November 19, 2016
Defining the hidden evidence in autism research. Forty per cent of rigorously designed clinical trials remain unpublished - a cross-sectional analysisKonstantin Mechler, Georg F Hoffmann, Ralf W Dittmann, et al.
Plos One|August 25, 2016
Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional AnalysisJan Henje Döring, Anette Lampert, Georg F Hoffmann, et al.
Neurobiology of Disease|January 15, 2005
Enhanced calcium release in the acute neuronopathic form of Gaucher diseaseDori Pelled, Selena Trajkovic-Bodennec, Emyr Lloyd-Evans, et al.
Molecular Genetics and Metabolism|December 6, 2016
Gaucher disease: Progress and ongoing challengesPramod K Mistry, Grisel Lopez, Raphael Schiffmann, et al.
Plos One|September 7, 2012
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutationsAnne Fogli, Christine Merle, Véronique Roussel, et al.
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