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Brain & Development|April 24, 2012
Quantitative computed tomography for enzyme replacement therapy in Pompe diseaseChihiro Yonee, Mitsuo Toyoshima, Sarah P Young, et al.
Molecular Genetics and Metabolism|September 6, 2011
Atypical immunologic response in a patient with CRIM-negative Pompe diseaseMary-Alice Abbott, Sean N Prater, Suhrad G Banugaria, et al.
Molecular Genetics and Metabolism Reports|December 1, 2025
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencingIskren Menkovic, Neelam Makhijani, Ludmila Francescatto, et al.
Diabetes Care|November 22, 2011
Urinary F2-isoprostanes as a biomarker of reduced risk of type 2 diabetesDora Il'yasova, Ivan Spasojevic, Karel Base, et al.
Comparative Medicine|February 18, 2016
Natural Progression of Canine Glycogen Storage Disease Type IIIaElizabeth D Brooks, Haiqing Yi, Stephanie L Austin, 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.
Molecular Therapy : the Journal of the American Society of Gene Therapy|December 9, 2004
Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type IIBaodong Sun, Haoyue Zhang, Luis M Franco, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 23, 2014
Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe diseaseBenjamin L Farah, Lauran Madden, Songtao Li, et al.
Molecular Genetics and Metabolism|October 12, 2010
Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VIChristiane Auray-Blais, Patrick Bhérer, René Gagnon, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 31, 2012
An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paperChristiane Auray-Blais, Pamela Lavoie, Haoyue Zhang, et al.
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