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Deborah Marsden

Showing results (21-30 of 32) with videos related to

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JIMD Reports|October 6, 2017
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase DeficiencyAbdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, et al.
The Journal of Pediatrics|March 18, 2003
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edemaJonathan D Picker, Ana C Puga, Harvey L Levy, et al.
Molecular Genetics and Metabolism|February 18, 2020
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VIIRaymond Y Wang, José Francisco da Silva Franco, Jaime López-Valdez, et al.
Molecular Genetics and Metabolism|August 27, 2020
Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]Raymond Y Wang, José Francisco da Silva Franco, Jaime López-Valdez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee, Miao He, Nilanjana Majumder, et al.
Orphanet Journal of Rare Diseases|February 10, 2019
Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholdersAndrew E Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, et al.
JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
Molecular Genetics and Metabolism|March 8, 2024
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey programErru Yang, Eliza Kruger, David Yin, et al.
Orphanet Journal of Rare Diseases|May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programRoberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
JIMD Reports|October 6, 2017
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase DeficiencyAbdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, et al.
The Journal of Pediatrics|March 18, 2003
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edemaJonathan D Picker, Ana C Puga, Harvey L Levy, et al.
Molecular Genetics and Metabolism|February 18, 2020
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VIIRaymond Y Wang, José Francisco da Silva Franco, Jaime López-Valdez, et al.
Molecular Genetics and Metabolism|August 27, 2020
Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]Raymond Y Wang, José Francisco da Silva Franco, Jaime López-Valdez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee, Miao He, Nilanjana Majumder, et al.
Orphanet Journal of Rare Diseases|February 10, 2019
Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholdersAndrew E Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, et al.
JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
Molecular Genetics and Metabolism|March 8, 2024
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey programErru Yang, Eliza Kruger, David Yin, et al.
Orphanet Journal of Rare Diseases|May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programRoberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Pageof 4