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Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review (tandfonline.com)

Constantinos Constantinides,Sarah H. LandisORCID Icon,James Jarrett,Jennifer Quinn, Penelope J. Ireland

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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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Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Christoph Schwering, MD, Gertrud Kammler, MD, Eva Wibbeler, MD, Marin Chrsitner, MD, Johannes K.-M. Knobloch, MD, Miriam Nickel, MD, Jonas Denecke, MD, Michael Baehr, PhD, and Angela Schulz, MD, PhD

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Experiences of children and adolescents living with achondroplasia and their caregivers

Renée Shediac, Olga Moshkovich, Heather Gerould, Rachel Ballinger, Agnes Williams, M. Alex Bellenger, Jennifer Quinn, Julie Hoover-Fong, Klaus Mohnike, Ravi Savarirayan, Dominique Kelly

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Persostence of haemostatic response following gene therapy with valoctocogene roxaparvovec in severe hemophilia 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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Assessing the potential cost-effectiveness of a gene therapy for the treatment of hemophilia A

Keziah Cook, Shaun P. Forbes, Kelly Adamski, Janice J. Ma, Anita Chawla & Louis P. Garrison Jr

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Diagnosing mucopolysaccharidosis IVA

Timothy C. Wood, Katie Harvey, Michael Beck, Maira Graeff Burin, Yin-Hsiu Chien, Heather J. Church, Vânia D’Almeida, Otto P. van Diggelen, Michael Fietz, Roberto Giugliani, Paul Harmatz, Sara M. Hawley, Wuh-Liang Hwu, David Ketteridge, Zoltan Lukacs, Nicole Miller, Marzia Pasquali, Andrea Schenone, Jerry N. Thompson, Karen Tylee, Chunli Yu, Christian J. Hendriksz

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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

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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

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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