• Publication

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Christian J. Hendriksz, Barbara Burton, Thomas R. Fleming, Paul Harmatz, Derralynn Hughes, Simon A. Jones, Shuan-Pei Lin, Eugen Mengel, Maurizio Scarpa, Vassili Valayannopoulos, Roberto Giugliani, STRIVE Investigators, Peter Slasor, Debra Lounsbury, Wolfgang Dummer

• Publication

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

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

• Publication

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Paul R. Harmatz, Christina Lampe, Rossella Parkini, Reena Sharma, Elisa L. Teles, Julie Johnson, Debbie Sivam, Zlatko Sisic

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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

Charles M Lourenço, Andre Pessoa, Carmen C Mendes, Carolina Rivera-Nieto, Diane Vergara, Mónica Troncoso, Emily Gardner, Francisca Mallorens, Lina Tavera, Luis A Lizcano, Nora Atanacio, Norberto Guelbert, Norma Specola, Nury Mancilla, Carolina FM de Souza and Sara E Mole

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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

Fernanda Leal- Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen- Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya

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Persistence of haemostatic response following gene therapy with valoctocogene roxaparvovec in severe haemophilia A

K John Pasi, Michael Laffan, Savita Rangarajan, Tara M Robinson, Nina Mitchell, Will Lester, Emily Symington, Bella Madan, Xinqun Yang, Benjamin Kim, Glenn F Pierce, Wing Yen Wong

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