Highly potent MyoAAV4A vector reverses GSD III pathology in aged mice and enables long-term muscle disease correction in young adult mice
Kuo-An Liao, Haiqing Yi, Haoyue Zhang, William Eisner et autres
0 citationsMolecular Therapy Advances
Sarah P. Young
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162Publications signalées
6517Citations signalées
4Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusMetabolism and Genetic DisordersCarbohydrate Chemistry and SynthesisBiochemical and Molecular Research
Publications récentes
A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options
Katerina S. Kucera, Kristin Clinard, Samantha Blake, Veronica R. Copeland et autres
0 citationsGenetics in Medicine
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency
Eileen Gilbert, Iskren Menkovic, Dwight D. Koeberl, Sarah P. Young et autres
0 citationsUNC Libraries
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review
Myriam Boueri, Jessica Doxey, Tracy Boggs, Laura E. Case et autres
3 citationsMolecular Genetics and Metabolism
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis
Molly M. Crenshaw, Yasmeen Midgette, Shruthi Mohan, Ruhan Wei et autres
0 citationsJIMD Reports
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease
Ankit K. Desai, Eleanor Rodriguez-Rassi, Suhag Parikh, Rossana Sanchez Russo et autres
1 citationGenetics in Medicine Open
Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa−/− Pompe disease mice
Paige Nowlin, Yongzhi Zhang, Amanda Chrisholm, Haoyue Zhang et autres
1 citationMolecular Genetics and Metabolism
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing
Iskren Menkovic, Neelam Makhijani, Ludmila Francescatto, Surekha Pendyal et autres
0 citationsMolecular Genetics and Metabolism Reports
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2
Rebecca A. Gibson, William R. Jeck, Rebecca L. Koch, Neha Jumani et autres
1 citationScience Advances
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience
Neha Regmi, Daniel Kenney‐Jung, Grace A. Stafford, Michael D. Malinzak et autres
3 citationsGenetics in Medicine
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease
Neelam Makhijani, Myriam Boueri, Tracy Boggs, Laura E. Case et autres
1 citationMolecular Genetics and Metabolism
Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia
Madeline G. Hemmingsen, Guofang Zhang, Yunhan Ma, Hannah Marchuk et autres
5 citationsJCI Insight
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