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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2026
A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing OptionsKaterina S Kucera, Kristin Clinard, Samantha L Blake, et al.
JCI Insight|January 29, 2020
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiencyLindsay C Burrage, Simran Madan, Xiaohui Li, et al.
The New England Journal of Medicine|November 9, 2022
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's DiseaseJennifer L Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, et al.
Molecular Genetics and Metabolism|October 31, 2023
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert PanelJennifer L Goldstein, Jennifer McGlaughon, Dona Kanavy, et al.
Science Translational Medicine|December 1, 2017
Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidaseFrancesco Puzzo, Pasqualina Colella, Maria G Biferi, et al.
Molecular Genetics and Metabolism|May 26, 2026
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panelMelanie Lacaria, Jennifer L Goldstein, Carlos Aschoff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2009
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe diseaseMarc Nicolino, Barry Byrne, J Edmund Wraith, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
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