Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

por Marsden, Deborah, Bedrosian, Camille L., Vockley, Jerry
Publicado 2021

Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example

por Kruger, Eliza, McNiven, Paul, Marsden, Deborah
Publicado 2022

Growth patterns in patients with mucopolysaccharidosis VII

por Montaño, Adriana M., Różdżyńska-Świątkowska, Agnieszka, Jurecka, Agnieszka, Ramirez, Antonio Nino, Zhang, Lin, Marsden, Deborah, Wang, Raymond Y., Harmatz, Paul
Publicado 2023

The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

por Berry, Gerard T., Blume, Elizabeth D., Wessel, Ann, Singh, Tajinder, Hecht, Leah, Marsden, Deborah, Sahai, Inderneel, Elisofon, Scott, Ferguson, Michael, Kim, Heung Bae, Harris, David J., Demirbas, Didem, Almuqbil, Mohammed, Nyhan, William L.
Publicado 2020

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

por Mulberg, Andrew E., Bucci-Rechtweg, Christina, Giuliano, Joseph, Jacoby, David, Johnson, Franklin K., Liu, Qing, Marsden, Deborah, McGoohan, Scott, Nelson, Robert, Patel, Nita, Romero, Klaus, Sinha, Vikram, Sitaraman, Sheela, Spaltro, John, Kessler, Vivian
Publicado 2019

Pompe disease diagnosis and management guideline

por Kishnani, Priya S., Steiner, Robert D., Bali, Deeksha, Berger, Kenneth, Byrne, Barry J., Case, Laura, Crowley, John F., Downs, Steven, Howell, R. Rodney, Kravitz, Richard M., Mackey, Joanne, Marsden, Deborah, Martins, Anna Maria, Millington, David S., Nicolino, Marc, O’Grady, Gwen, Patterson, Marc C., Rapoport, David M., Slonim, Alfred, Spencer, Carolyn T., Tifft, Cynthia J., Watson, Michael S.
Publicado 2006