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

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

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

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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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Achondroplasia Clinical Trials

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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

• News Post

A 100-Mile Road to Diagnosis: A Mother Shares Her Son’s Journey with Hypochondroplasia