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Updated: Aug 22, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease

Jennifer L Cohen1, Pranesh Chakraborty1, Karen Fung-Kee-Fung1

  • 1From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).

The New England Journal of Medicine
|November 9, 2022
PubMed

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