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Clinical Genetics (M.D.) Physician in Minneapolis, MN
NPI: 1306023593HQ Phone
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Authors: Stephanie Sacharow, Joseph Ray, Hans Andersson, Markey Mcnutt, Janet Thomas, Melissa Lah, Darius Adams
Journal: Mol Genet Metab Rep
Publication Date: 2021-08-14
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Authors: Margarita Saenz, Chanika Phornphutkul, William Wilson, Nicola Brunetti-Pierri, Ronald Cohn
Publication Date: 2021-01-20
Lead Sponsor: Protalix
Collaborators: Chiesi Farmaceutici S.p.A.
Intervention / Treatment: BIOLOGICAL: agalsidase beta, BIOLOGICAL: PRX-102 (pegunigalsidase alfa)