Showing 1 - 4 results of 4 for search 'Monica Penon-Portmann', query time: 0.03s Refine Results
  1. 1
    Current and new therapies for mucopolysaccharidoses

    Current and new therapies for mucopolysaccharidoses by Monica Penon-Portmann, David R. Blair, Paul Harmatz

    Published 2023-02-01
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  2. 2
    Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

    Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genom... by Monica Penon-Portmann, Sheri A. Poskanzer, Jaya Ganesh, Irene Chang

    Published 2023-01-01
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  3. 3
    Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

    Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Ge... by Julie M. Lander, Monica Penon-Portmann, V. Reid Sutton, Irene Chang

    Published 2024-01-01
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  4. 4
    Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

    Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy by Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González

    Published 2023-10-01
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