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Pediatrics, Medical Genetics
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Pediatrics, Medical Genetics
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Recent Scholarship
Scholars
19
Publications
2,223
Featured Publications
Developing therapeutics for rare cardiovascular diseases.
Journal Article
Am Heart J
·
February 2026
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Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease
Journal Article
eBioMedicine
·
January 2026
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Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease
Journal Article
Genetics in Medicine Open
·
January 1, 2026
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Featured Grants
GSDIa Disease Monitoring Program Protocol Number:
Clinical Trial
·
Awarded by Ultragenyx Pharmaceutical ·
2025 - 2037
A GLOBAL PROSPECTIVE OBSERVATIONAL REGISTRY OF PATIENTS WITH POMPE DISEASE
Clinical Trial
·
Awarded by Amicus Therapeutics, Inc. ·
2024 - 2033
A Post-Authorization Safety Study (PASS) to Assess Long-term Safety in Patients with Pompe Disease Treated with Avalglucosidase alfa
Clinical Trial
·
Awarded by Sanofi US ·
2024 - 2030
Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical Trial
·
Awarded by Genzyme Corporation ·
2022 - 2030
Evaluation of children with the "late-onset" Pompe disease GAA variants identified by newborn screening: Guidance for in person or virtual monitoring
Clinical Trial
·
Awarded by Genzyme Corporation ·
2021 - 2029
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