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Analytical Biochemistry|January 14, 2012
Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouseMaria Fuller, Stephen Duplock, Christopher Turner, et al.
The Biochemical Journal|December 7, 2007
Effect of lysosomal storage on bis(monoacylglycero)phosphatePeter J Meikle, Stephen Duplock, David Blacklock, et al.
British Journal of Haematology|April 26, 2002
Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosisChristine J Harrison, Helen Mazzullo, Fiona M Ross, et al.
Brain : a Journal of Neurology|August 10, 2010
Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational studyMarieke Biegstraaten, Eugen Mengel, Laszlo Maródi, et al.
Brain : a Journal of Neurology|June 13, 2014
Visual short-term memory deficits associated with GBA mutation and Parkinson's diseaseNahid Zokaei, Alisdair McNeill, Christos Proukakis, et al.
Chest|April 16, 2021
The Usefulness of Chest CT Imaging in Patients With Suspected or Diagnosed COVID-19: A Review of LiteratureStephen Machnicki, Dhara Patel, Anup Singh, et al.
The Journal of Thoracic and Cardiovascular Surgery|May 22, 2018
Low pretransplant IgA level is associated with early post-lung transplant seromucous infectionSudish C Murthy, Robin K Avery, Marie Budev, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2010
Therapeutic goals in the treatment of Fabry diseaseAtul Mehta, Michael L West, Guillem Pintos-Morell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 22, 2010
Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literatureOlivier Lidove, Michael L West, Guillem Pintos-Morell, et al.
American Journal of Hematology|March 18, 2015
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher diseaseDeborah Elstein, Atul Mehta, Derralynn A Hughes, et al.
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