Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme(®)) therapy

por Koseoglu, Selim T., Harmatz, Paul, Turbeville, Sean, Nicely, Helen
Publicado 2008

Mucopolysaccharidosis VI

por Valayannopoulos, Vassili, Nicely, Helen, Harmatz, Paul, Turbeville, Sean
Publicado 2010

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

por Giugliani, Roberto, Harmatz, Paul, Lin, Shuan-Pei, Scarpa, Maurizio
Publicado 2020

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey

por Lau, Heather, Harmatz, Paul, Botha, Jaco, Audi, Jennifer, Link, Bianca
Publicado 2023

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients

por Leiro, Beth, Phillips, Dawn, Duiker, Melanie, Harmatz, Paul, Charles, Sharon
Publicado 2021

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

por Hendriksz, Christian J., Harmatz, Paul, Giugliani, Roberto, Roberts, Jane, Arul, G. Suren
Publicado 2018

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

por Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella
Publicado 2017

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome...

por Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K.
Publicado 2021

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

por Harmatz, Paul R., Garcia, Paula, Guffon, Nathalie, Randolph, Linda M., Shediac, Renée, Braunlin, Elizabeth, Lachman, Ralph S., Decker, Celeste
Publicado 2013

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y

por Jones, Simon A., Bialer, Martin, Parini, Rossella, Martin, Ken, Wang, Hui, Yang, Ke, Shaywitz, Adam J., Harmatz, Paul
Publicado 2015

Orthopedic management of the extremities in patients with Morquio A syndrome

por White, Klane K., Jester, Andrea, Bache, C. Edward, Harmatz, Paul R., Shediac, Renée, Thacker, Mihir M., Mackenzie, William G.
Publicado 2014

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population

por Haller, Christine, Song, Wenjie, Cimms, Tricia, Chen, Chao‐Yin, Whitley, Chester B., Wang, Raymond Y., Bauer, Mislen, Harmatz, Paul
Publicado 2019

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

International Guidelines for the Management and Treatment of Morquio A Syndrome

por Hendriksz, Christian J, Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Villarreal, Martha Solano, Savarirayan, Ravi
Publicado 2015

Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients

por Schwab, Marisa E., Brown, Julia E. H., Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C., Gallagher, Renata C., Harmatz, Paul, MacKenzie, Tippi C.
Publicado 2022

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

por Muenzer, Joseph, Bodamer, Olaf, Burton, Barbara, Clarke, Lorne, Frenking, Gudrun Schulze, Giugliani, Roberto, Jones, Simon, Rojas, Maria Verónica Muñoz, Scarpa, Maurizio, Beck, Michael, Harmatz, Paul
Publicado 2011

Anaesthesia and airway management in mucopolysaccharidosis

por Walker, Robert, Belani, Kumar G., Braunlin, Elizabeth A., Bruce, Iain A., Hack, Henrik, Harmatz, Paul R., Jones, Simon, Rowe, Richard, Solanki, Guirish A., Valdemarsson, Barbara
Publicado 2012

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair

por Grant, Nathan, Sohn, Young Bae, Ellinwood, N. Matthew, Okenfuss, Ericka, Mendelsohn, Bryce A., Lynch, Leslie E., Braunlin, Elizabeth A., Harmatz, Paul R., Eisengart, Julie B.
Publicado 2022

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

por Braunlin, Elizabeth A., Harmatz, Paul R., Scarpa, Maurizio, Furlanetto, Beatriz, Kampmann, Christoph, Loehr, James P., Ponder, Katherine P., Roberts, William C., Rosenfeld, Howard M., Giugliani, Roberto
Publicado 2011

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

por Muenzer, Joseph, Burton, Barbara K., Amartino, Hernan M., Harmatz, Paul R., Gutiérrez-Solana, Luis González, Ruiz-Garcia, Matilde, Wu, Yuna, Merberg, David, Alexanderian, David, Jones, Simon A.
Publicado 2023