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O31: X-linked inheritance results in different sex-specific phenotypes, penetrance, disease course, diagnostic odysseys, and newborn screening sensitivity in Fabry disease by Yutaka Furuta, Natalie Owen, Lisa Bastarache, Chelsea Lauderdale, Laila AI-Shaar, Elvira Ponce, Neena Agrawal, Camille Carter, Karee Morgan, Rizwan Hamid, John Phillips, Rory Tinker
Published 2025-01-01Get full text
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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... by Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III
Published 2024-12-01Get full text
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