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Science Advances|November 12, 2025
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2Rebecca A Gibson, William R Jeck, Rebecca L Koch, et al.
The Journal of Pediatrics|October 14, 2019
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe DiseaseNeerja Gupta, Zoheb B Kazi, Sheela Nampoothiri, et al.
Molecular Genetics and Metabolism|November 2, 2024
Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human diseaseRebecca A Gibson, William R Jeck, Rebecca L Koch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoringCarine A Halaby, Sarah P Young, Stephanie Austin, et al.
Human Molecular Genetics|September 19, 2009
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage diseasePriya S Kishnani, Tzu-Po Chuang, Deeksha Bali, et al.
Practical Laboratory Medicine|November 14, 2019
Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimensAnirudh J Ullal, Hong Pham, Rajendra Singh, et al.
Molecular Genetics and Metabolism|August 12, 2011
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectivesArnold J Reuser, Frans W Verheijen, Deeksha Bali, et al.
Molecular Genetics and Metabolism|September 25, 2009
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infantsPriya S Kishnani, Paula C Goldenberg, Stephanie L DeArmey, et al.
Clinical Chemistry|August 24, 2011
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newbornsRamakrishna S Sista, Allen E Eckhardt, Tong Wang, et al.
Prenatal Diagnosis|November 13, 2023
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospectsAkos Herzeg, Beltran Borges, Billie R Lianoglou, et al.
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