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Molecular Genetics and Metabolism|January 16, 2013
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type IIIBaodong Sun, Keri Fredrickson, Stephanie Austin, et al.
Molecular Genetics and Metabolism|December 5, 2025
Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa-/- Pompe disease micePaige Nowlin, Yongzhi Zhang, Amanda Chrisholm, et al.
Molecular Genetics and Metabolism|November 11, 2017
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe diseaseMari Mori, Gloria Haskell, Zoheb Kazi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2006
Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe diseaseHaoyue Zhang, Helmut Kallwass, Sarah P Young, et al.
American Journal of Medical Genetics. Part A|March 11, 2006
Non-lethal congenital hypotonia due to glycogen storage disease type IVT Andrew Burrow, Robert J Hopkin, Kevin E Bove, et al.
Molecular Genetics and Metabolism|June 4, 2021
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2<sup>-/-</sup> mouse modelRebecca A Gibson, Jeong-A Lim, Su Jin Choi, et al.
Journal of Inherited Metabolic Disease|August 13, 2017
PRKAG2 mutations presenting in infancyRachel D Torok, Stephanie L Austin, Chanika Phornphutkul, et al.
Annals of Translational Medicine|August 9, 2019
Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe diseaseJousef Alandy-Dy, Marie Wencel, Kathy Hall, et al.
Molecular Genetics and Metabolism|November 27, 2025
Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlationAnne Taylor, Desale Yacob, Bonita Fung, et al.
Molecular Genetics and Metabolism|December 17, 2019
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe diseaseDwight D Koeberl, Laura E Case, Ankit Desai, et al.
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