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Deborah Marsden

Showing results (11-20 of 32) with videos related to

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Molecular Genetics and Metabolism|February 1, 2024
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?Christina L Grant, Jaime López-Valdez, Deborah Marsden, et al.
Journal of Pediatric Psychology|September 7, 2004
Brief report: Predictors of parenting stress among parents of children with biochemical genetic disordersSusan E Waisbren, Michelle Rones, Catherine Y Read, et al.
Molecular Genetics and Metabolism|June 28, 2015
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart reviewJerry Vockley, Deborah Marsden, Elizabeth McCracken, et al.
Molecular Genetics and Metabolism|June 22, 2020
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidosesSimon A Jones, Deborah Marsden, Tony Koutsoukos, et al.
Clinical Biochemistry|September 14, 2012
Recurrent unexplained hyperammonemia in an adolescent with arginase deficiencyYan Zhang, Yuval E Landau, David T Miller, et al.
Current Medical Research and Opinion|September 18, 2024
Clinical manifestations, healthcare resource utilization, and costs among patients with long-chain fatty acid oxidation disorders: a retrospective claims database analysisErru Christy Yang, Zhenzhen Fang, Ruixin Tan, et al.
Molecular Genetics and Metabolism Reports|July 7, 2023
Growth patterns in patients with mucopolysaccharidosis VIIAdriana M Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, et al.
Molecular Genetics and Metabolism|April 23, 2022
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access programJerry Vockley, Gregory M Enns, Antonio Nino Ramirez, et al.
Pediatrics|May 3, 2008
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screeningHo-Wen Hsu, Thomas H Zytkovicz, Anne Marie Comeau, et al.
Molecular Genetics and Metabolism|March 25, 2022
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VIIHeather A Lau, David Viskochil, Pranoot Tanpaiboon, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|February 1, 2024
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?Christina L Grant, Jaime López-Valdez, Deborah Marsden, et al.
Journal of Pediatric Psychology|September 7, 2004
Brief report: Predictors of parenting stress among parents of children with biochemical genetic disordersSusan E Waisbren, Michelle Rones, Catherine Y Read, et al.
Molecular Genetics and Metabolism|June 28, 2015
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart reviewJerry Vockley, Deborah Marsden, Elizabeth McCracken, et al.
Molecular Genetics and Metabolism|June 22, 2020
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidosesSimon A Jones, Deborah Marsden, Tony Koutsoukos, et al.
Clinical Biochemistry|September 14, 2012
Recurrent unexplained hyperammonemia in an adolescent with arginase deficiencyYan Zhang, Yuval E Landau, David T Miller, et al.
Current Medical Research and Opinion|September 18, 2024
Clinical manifestations, healthcare resource utilization, and costs among patients with long-chain fatty acid oxidation disorders: a retrospective claims database analysisErru Christy Yang, Zhenzhen Fang, Ruixin Tan, et al.
Molecular Genetics and Metabolism Reports|July 7, 2023
Growth patterns in patients with mucopolysaccharidosis VIIAdriana M Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, et al.
Molecular Genetics and Metabolism|April 23, 2022
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access programJerry Vockley, Gregory M Enns, Antonio Nino Ramirez, et al.
Pediatrics|May 3, 2008
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screeningHo-Wen Hsu, Thomas H Zytkovicz, Anne Marie Comeau, et al.
Molecular Genetics and Metabolism|March 25, 2022
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VIIHeather A Lau, David Viskochil, Pranoot Tanpaiboon, et al.
Pageof 4