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JIMD Reports|September 13, 2023
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapyWilliam B Hannah, Laura E Case, Edward C Smith, et al.
Molecular Genetics and Metabolism|October 22, 2008
Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case studyLaura E Case, Dwight D Koeberl, Sarah P Young, et al.
Clinical Biochemistry|September 17, 2013
Novel application of digital microfluidics for the detection of biotinidase deficiency in newbornsCarrie Graham, Ramakrishna S Sista, Jairus Kleinert, et al.
Molecular Genetics and Metabolism|April 13, 2013
Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidicsRamakrishna S Sista, Tong Wang, Ning Wu, et al.
Seminars in Perinatology|March 9, 2010
Digital microfluidics: a future technology in the newborn screening laboratory?David S Millington, Ramakrishna Sista, Allen Eckhardt, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|September 21, 2012
Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe diseaseSongtao Li, Baodong Sun, Mats I Nilsson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 22, 2003
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiencySarah P Young, Dietrich Matern, Niels Gregersen, et al.
Molecular Genetics and Metabolism|February 3, 2007
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spotsHelmut Kallwass, Cortney Carr, Joseph Gerrein, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 21, 2014
Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe diseaseDwight D Koeberl, Stephanie Austin, Laura E Case, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 11, 2013
Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platformRamakrishna S Sista, Tong Wang, Ning Wu, et al.
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