Search Results - Jennifer Audi
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Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey by Heather Lau, Paul Harmatz, Jaco Botha, Jennifer Audi, Bianca Link
Published in Molecular Genetics and Metabolism Reports (2023-12-01)Get full text
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A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II by Olulade Ayodele, Daniel Fertek, Obaro Evuarherhe, Csaba Siffel, Jennifer Audi, Karen S. Yee, Barbara K. Burton
Published in International Journal of Neonatal Screening (2024-10-01)Get full text
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P574: Long-chain fatty acid oxidation disorders: A review of newborn screening around the globe for LC-FAOD by Vanessa Rangel Miller, Jennifer Audi, Sarah C. Grünert, Pinay Kainth, David Kasper, Tatiele Nalin, Mariza Pasquali, Go Tajima, Kimimasa Tobita, Nicole Miller, Ida Vanessa Schwartz
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey by Joseph Muenzer, Hernan Amartino, Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Bianca Link, David Molter, Uma Ramaswami, Maurizio Scarpa, Jaco Botha, Jennifer Audi, Barbara K. Burton
Published in Orphanet Journal of Rare Diseases (2025-07-01)Get full text
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Patient preferences in genetic newborn screening for rare diseases: study protocol by Antonio Novelli, Alessandra Ferlini, Ferdinand Knieling, Brett Hauber, Jorien Veldwijk, Mats Hansson, Janbernd Kirschner, Åsa Grauman, Sylvia MARTIN, Emanuele Angolini, Jennifer Audi, Dr. Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Edith Gross, Gergana Kyosovksa, Silvia Ottombrino, Roman Raming, Stefaan Sansen, Christina Saier
Published in BMJ Open (2024-04-01)Get full text
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