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Management Strategies for CLN2 Disease

Ruth E. Williams DM, FRCPCH, Heather R. Adams PhD, Martin Blohm MD, Jessica L. Cohen-Pfeffer MD, Emily de los Reyes MD, Jonas Denecke MD, Kristen Drago RN, CHPPN, Charlie Fairhurst MBBS, FRCPCH, Margie Frazier PhD, Norberto Guelbert MD, PhD, Szilárd Kiss MD, Annamaria Kofler PT, John A. Lawson BMed, FRACP, PhD, Lenora Lehwald MD, Mary-Anne Leung SRD, Svetlana, Mikhaylova MD, Jonathan W. Mink MD, PhD, Miriam Nickel MD, Renée Shediac PhD, Katherine Sims MD, Nicola Specchio MD, PhD, Meral Topcu MD, Ina von Löbbecke PT, Andrea West MSc, Boris Zernikow MD, PhD, Angela Schulz MD, PhD

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Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

Angela Schulz, MD PhD , Nicola Specchio, MD PhD, Emily de los Reyes, MD, Paul Gissen, MD PhD, Miriam Nickel, MD, Marina Trivisano, MD PhD, Shawn C Aylward, MD, Anupam Chakrapani, MD, Christoph Schwering, MD, Eva Wibbeler, MD, Lena Marie Westermann, MD, Douglas J Ballon, PhD, Jonathan P Dyke, PhD DABMP, Anu Cherukuri, PhD, Shailesh Bondade, MD, Peter Slasor, ScD, Jessica Cohen Pfeffer, MD

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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

Barbara K. Burton, Álvaro Hermida, Amaya Bélanger-Quintana, Heather Bell, Kendra J. Bjoraker, Shawn E. Christ, Mitzie L. Grant, Cary O. Harding, Stephan C.J. Huijbregts, Nicola Longo, Markey C. McNutt II, Mina D. Nguyen-Driver, André L. Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez-Valle, H. Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle, Ania C. Muntau

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Adherence to clinic recommendations among patients with phenylketonuria in the United States

E.R. Jurecki, S. Cederbaum, J. Kopesky, K. Perry, F. Rohr, A. Sanchez-Valle, K.S. Viau, M.Y. Sheinin, J.L. Cohen-Pfeffer

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Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria

Deborah A. Bilder, J. Kay Noel, Erin R. Baker, William Irish, Yinpu Chen, Markus J. Merilainen, Suyash Prasad, and Barbara J. Winslow

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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Ania C. Muntau, Darius J. Adams, Amaya Bélanger-Quintana, Tatiana V. Bushueva, Roberto Cerone, Yin-Hsiu Chien, Ana Chiesa, Turgay Coşkun, Javier de las Heras, François Feillet, Rachel Katz, Florian Lagler, Flavia Piazzon, Fran Rohr, Francjan J. van Spronsen, Paula Vargas, Gisela Wilcox, Kaustuv Bhattacharya

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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

Susan Waisbren, Barbara K. Burton, Annette Feigenbaum, Laura L. Konczal, Joshua Lilienstein, Shawn E. McCandless, Richard Rowell, Amarilis Sanchez-Valle, Kaleigh B. Whitehall, Nicola Longo

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Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

Nicola Longo, Georgianne L. Arnold, Gabriella Pridjian, Gregory M. Enns, Can Ficicioglu, Susan Parker, Jessica L. Cohen-Pfeffer

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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Nicola Longo, MD, PhD, David Dimmock, MD, Harvey Levy, MD, Krista Viau, PhD, RD, Heather Bausell, RD, LDN, Deborah A. Bilder, MD, Barbara Burton, MD, Christel Gross, RN, Hope Northrup, MD, Fran Rohr, MS, RD, Stephanie Sacharow, MD, Amarilis Sanchez-Valle, MD, Mary Stuy, MD, Janet Thomas, MD, Jerry Vockley, MD, PhD, Roberto Zori, MD and Cary O. Harding, MD

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Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

Melissa Lah, Keziah Cook, Dumingu Aparna Gomes, Stephanie Liu, Nadia Tabatabaeepour, Noam Kirson, Er Chen, Kristin Lindstrom, Kaleigh Bulloch Whitehall, Joost Van Backle, Barbara K. Burton

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Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

Darius Adams, Hans C. Andersson, Heather Bausell, Kea Crivelly, Caroline Eggerding, Melissa Lah, Joshua Lilienstein, Kristin Lindstrom, Markey McNutt, Joseph W. Ray, Heather Saavedra, Stephanie Sacharow, Danielle Starin, Jennifer Tiffany-Amaro, Janet Thomas, Erika Vucko, Leah B. Wessenberg, Kaleigh Whitehall

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Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)

Janet Thomasa, Harvey Levy, Stephen Amato, Jerry Vockley, Roberto Zori, David Dimmock, Cary O. Harding, Deborah A. Bilder, Haoling H. Weng, Joy Olbertz, Markus Merilainen, Joy Jiang, Kevin Larimore, Soumi Gupta, Zhonghua Gu, Hope Northrup, on behalf of the PRISM investigators

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Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial

Cary O. Harding, R. Stephen Amato, Mary Stuy, Nicola Longo, Barbara K. Burtone, John Posner, Haoling H. Weng, Markus Merilainen, Zhonghua Gu, Joy Jiang, Jerry Vockley, on behalf of the PRISM-2 Investigators

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Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data

Fran Rohr, Barbara Burton, Anne Dee, Cary O. Harding, Joshua Lilienstein, Kristin Lindstrom, Erin MacLeod, Sarah Rose, Rani Singh, Sandra van Calcar, Kaleigh Whitehall

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Valoctocogene Roxaparvovec Gene Therapy for Hemophilia A

Margareth C. Ozelo, M.D., Ph.D., Johnny Mahlangu, M.B., B.Ch., M.Med., K. John Pasi, M.D., Ph.D., Adam Giermasz, M.D., Ph.D., Andrew D. Leavitt, M.D., Michael Laffan, M.D., Ph.D., Emily Symington, M.D., Doris V. Quon, M.D., Ph.D., Jiaan-Der Wang, M.D., Ph.D., Kathelijne Peerlinck, M.D., Ph.D., Steven W. Pipe, M.D., Bella Madan, M.D., Nigel S. Key, M.D., Glenn F. Pierce, M.D., Ph.D., Brian O’Mahony, F.A.C.S.L.M., Radoslaw Kaczmarek, Ph.D., Joshua Henshaw, Ph.D., Adebayo Lawal, M.D., Kala Jayaram, M.D., Mei Huang, M.S., Xinqun Yang, Ph.D., Wing Y. Wong, M.D., and Benjamin Kim, M.D. for the GENEr8-1 Trial Group^*

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Jeff Ajer