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Overview
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Recent Scholarship
Scholars
19
Publications
2,111
Featured Publications
How mass spectrometry revolutionized newborn screening.
Journal Article
J Mass Spectrom Adv Clin Lab
·
April 2024
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Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.
Journal Article
Orphanet J Rare Dis
·
March 8, 2024
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Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency.
Journal Article
Mol Genet Metab Rep
·
March 2024
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Featured Grants
A Phase 1/2, Global, Open-Label, Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study
Clinical Trial
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Awarded by Moderna Therapeutics, Inc. ·
2021 - 2029
An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Saftey, Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment-naive Pediatric Participants with Infantile-Onset Pompe Disease (IOPD)
Clinical Trial
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Awarded by Sanofi US ·
2022 - 2028
Gene therapy for glycogen storage disease type III
Research
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Awarded by National Institutes of Health ·
2022 - 2027
Dissecting AAV silencing in humanized mice
Research
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Awarded by National Institutes of Health ·
2023 - 2027
An Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in both ERT Experienced and ERT Naive Pediatric Subjects with Infantile- Onset Pompe Disease Aged 0 < 18
Clinical Trial
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Awarded by Amicus Therapeutics, Inc. ·
2023 - 2026
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