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O36: Lentiviral gene therapy for Fabry disease in the Canadian FACTS trial: 5 year end of study results by Aneal Khan, Dwayne Barber, William McKillop, Anthony Rupar, Christiane Auray-Blais, Graeme Fraser, Daniel Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael West, Jeffrey Medin
Published 2025-01-01Get full text
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The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation by Daniel Jové-Solavera, Marta Rámila, Xènia Ferrer-Cortés, Mireia Olivella, Veronica Venturi, Marta Morado, Ines Hernández-Rodríguez, Aneal Khan, Santiago Pérez-Montero, Cristian Tornador, Ulrich Germing, Norbert Gattermann, Mayka Sanchez
Published 2025-04-01Get full text
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Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial by Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin
Published 2025-01-01Get full text
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P020: Introducing an interactive, searchable database of LC-FAOD gene variants, genotypes and phenotypes by Vanessa Rangel Miller, Omid Japalaghi, Heather Richbourg, Moeenaldeen AlSayed, Peter Baker, II, Sarah C. Grünert, Sean Daugherty, Tali Ekstein, Mark Kiel, Aneal Khan, Hironori Kobayashi, Lawrence Korngut, Stephanie Monteleone, Ida Vanessa Schwartz, Nicole Miller, Jerry Vockley
Published 2025-01-01Get full text
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