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Internal Medicine Journal|November 11, 2020
Scoring system to facilitate diagnosis of Gaucher diseaseAtul Mehta, Oliver Rivero-Arias, Magy Abdelwahab, et al.
Blood Cells, Molecules & Diseases|November 16, 2010
Potential biomarkers of osteonecrosis in Gaucher diseaseElena V Pavlova, Patrick B Deegan, Jane Tindall, et al.
Heart (British Cardiac Society)|February 7, 2015
Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry DiseaseVimal Patel, Constantinos O'Mahony, Derralynn Hughes, et al.
Stem Cell Research|June 6, 2022
Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A)Quan Yu, Atul Mehta, Jizhong Zou, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|August 23, 2011
Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry diseaseConstantinos O'Mahony, Caroline Coats, Monserrat Cardona, et al.
Journal of Inherited Metabolic Disease|November 16, 2012
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytesDerek G Burke, Ahad A Rahim, Simon N Waddington, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysisMichael Beck, Derralynn Hughes, Christoph Kampmann, et al.
Molecular Genetics and Metabolism|September 12, 2016
Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher diseaseDeborah Elstein, T Andrew Burrow, Joel Charrow, et al.
British Journal of Haematology|March 22, 2003
Cytogenetics of multiple myeloma: interpretation of fluorescence in situ hybridization resultsChristine J Harrison, Helen Mazzullo, Kan L Cheung, et al.
Medicine|January 5, 2011
Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapyPatrick B Deegan, Elena Pavlova, Jane Tindall, et al.
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