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Molecular Genetics and Metabolism|April 27, 2007
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS IIAntony R Garcia, Jeffrey M DaCosta, Jing Pan, et al.
Molecular Genetics and Metabolism Reports|August 9, 2021
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registriesDeborah Elstein, Roberto Giugliani, Joseph Muenzer, et al.
Pediatrics|February 5, 2008
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)Rick Martin, Michael Beck, Christine Eng, et al.
Neuroradiology|June 19, 2004
Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentationM Gisele Matheus, Mauricio Castillo, J Keith Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2014
The natural history of MPS I: global perspectives from the MPS I RegistryMichael Beck, Pamela Arn, Roberto Giugliani, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|May 9, 2014
The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validationIngela Wiklund, Mireia Raluy-Callado, Wen-Hung Chen, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine|October 7, 2016
Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease)William I Wooten, Marianne S Muhlebach, Joseph Muenzer, et al.
Neuropsychiatric Disease and Treatment|May 5, 2009
Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndromeT David Elkin, Gail Megason, Anita Robinson, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 12, 2002
Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene deliveryHaiyan Fu, Richard J Samulski, Thomas J McCown, et al.
Journal of Clinical Medicine|January 21, 2023
Airway Findings in Patients with Hunter Syndrome Treated with Intravenous IdursulfaseRichard De Vuyst, Elizabeth Jalazo, Tamy Moraes Tsujimoto, et al.
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