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Clinical Chemistry|February 3, 2009
A convenient LC-MS method for assessment of glucose kinetics in vivo with D-[13C6]glucose as a tracerHaoyue Zhang, Robert D Stevens, Sarah P Young, et al.
Molecular Genetics and Metabolism|February 20, 2026
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic reviewMyriam Boueri, Jessica Doxey, Tracy Boggs, et al.
Molecular Therapy. Methods & Clinical Development|March 13, 2019
Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type IaHye-Ri Kang, Lauren Waskowicz, Andrea M Seifts, et al.
Molecular Genetics and Metabolism Reports|February 3, 2025
Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosisIskren Menkovic, Monika Williams, Neelam Makhijani, et al.
Molecular Genetics and Metabolism|May 12, 2005
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe diseaseYan An, Sarah P Young, Priya S Kishnani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2009
Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarkerSarah P Young, Haoyue Zhang, Deyanira Corzo, 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.
American Journal of Medical Genetics. Part A|June 21, 2023
An exploratory study of plasma ceramides in comorbidities in Down syndromeGordon Worley, Seul Kee Byeon, P Brian Smith, 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.
Human Molecular Genetics|December 10, 2019
Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type IaZollie A Yavarow, Hye-Ri Kang, Lauren R Waskowicz, et al.
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