Showing results (41-50 of 58) with videos related to

Sort By:
Pageof 6
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.
Molecular Genetics and Metabolism|September 12, 2024
Developing a scoring system for gene curation prioritization in lysosomal diseasesMatheus Vernet Machado Bressan Wilke, Jennifer Goldstein, Emily Groopman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe diseaseYoav H Messinger, Nancy J Mendelsohn, William Rhead, et al.
Medrxiv : the Preprint Server for Health Sciences|August 30, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Molecular Genetics and Metabolism|October 19, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Circulation|November 9, 2005
Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathyFerhaan Ahmad, Michael Arad, Nicolas Musi, et al.
Pediatric Research|May 9, 2003
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningDwight D Koeberl, Sarah P Young, Niels S Gregersen, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 21, 2018
Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe DiseaseDwight D Koeberl, Laura E Case, Edward C Smith, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 22, 2023
Phase I study of liver depot gene therapy in late-onset Pompe diseaseEdward C Smith, Sam Hopkins, Laura E Case, et al.
The Journal of Pediatrics|May 29, 2019
The North Carolina Experience with Mucopolysaccharidosis Type I Newborn ScreeningJennifer L Taylor, Kristin Clinard, Cynthia M Powell, et al.
Pageof 6