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Clinical and Translational Science|August 2, 2024
A case study of inclusion of rural populations in research: Implications for science and health equityDevon Noonan, Wendy K K Lam, James Goodrich, et al.Human Gene Therapy|November 11, 2014
Enhanced efficacy from gene therapy in Pompe disease using coreceptor blockadeSang-oh Han, Songtao Li, Elizabeth D Brooks, et al.Basic Research in Cardiology|July 11, 2024
The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemiaYou Wang, Suhong Zhu, Wentao He, et al.Nature|April 3, 2024
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemiaDwight Koeberl, Andreas Schulze, Neal Sondheimer, 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.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 Genetics|October 17, 2022
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cordParith Wongkittichote, Tae-Ik Choi, Oc-Hee Kim, et al.The Journal of Urology|January 23, 2010
Stone forming risk factors in patients with type Ia glycogen storage diseaseCharles D Scales, Aravind S Chandrashekar, Marnie R Robinson, et al.Journal of Gastroenterology|October 17, 2013
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkersLi-Ya Chiu, Priya S Kishnani, Tzu-Po Chuang, et al.American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.Pageof 3