Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I

por Thomas, Janet A., Beck, Michael, Clarke, Joe T. R., Cox, Gerald F.
Publicado 2010

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1

por Vu, Lucie, Cox, Gerald F., Ibrahim, Jennifer, Peterschmitt, M. Judith, Ross, Leorah, Thibault, Nathan, Turpault, Sandrine
Publicado 2020

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

por Thurberg, Beth L., Wasserstein, Melissa P., Jones, Simon A., Schiano, Thomas D., Cox, Gerald F., Puga, Ana Cristina
Publicado 2016

Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study

por Chapman, Kimberly A., MacEachern, Devon, Cox, Gerald F., Waller, Mavis, Fogarty, Jeanine, Granger, Suzanne, Stepanians, Miganush, Waisbren, Susan
Publicado 2023

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

por D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige
Publicado 2012

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

por Chuang, Wei-Lien, Pacheco, Joshua, Cooper, Samantha, Kingsbury, Jonathan S., Hinds, John, Wolf, Pavlina, Oliva, Petra, Keutzer, Joan, Cox, Gerald F., Zhang, Kate
Publicado 2015

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

por Lyn, Nicole, Pulikottil-Jacob, Ruth, Rochmann, Camille, Krupnick, Robert, Gwaltney, Chad, Stephens, Nick, Kissell, Julie, Cox, Gerald F., Fischer, Tanya, Hamed, Alaa
Publicado 2020

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

por Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K., Cox, Gerald F., Deshpande, Charu, Introne, Wendy J., Gahl, William A., Smith, Ann C. M., Huizing, Marjan
Publicado 2011

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

por Giugliani, Roberto, Vieira, Taiane Alves, Carvalho, Clarissa Gutierrez, Muñoz-Rojas, Maria-Veronica, Semyachkina, Alla N., Voinova, Victoria Y., Richards, Susan, Cox, Gerald F., Xue, Yong
Publicado 2017