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Metabolism Open|August 20, 2020
Metabonomics reveals altered metabolites related to inflammation and energy utilization at recovery of cystic fibrosis lung exacerbationMarianne S Muhlebach, Wei Sha, Beth MacIntosh, et al.
Medical Image Computing and Computer-Assisted Intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention|February 8, 2014
Patient-specific biomechanical modeling of ventricular enlargement in hydrocephalus from longitudinal magnetic resonance imagingYasheng Chen, Zheng Fan, Songbai Ji, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2022
Long-term open-label phase I/II extension study of intrathecal idursulfase-IT in the treatment of neuronopathic mucopolysaccharidosis IIJoseph Muenzer, Suresh Vijayaraghavan, Margot Stein, et al.
JIMD Reports|October 15, 2025
Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase InhibitorElizabeth R Jalazo, Leigh Anne Weisenfeld, Anna Ligezka, et al.
Pediatric Pulmonology|September 6, 2012
Bronchoscopy and airway management in patients with mucopolysaccharidoses (MPS)Marianne S Muhlebach, Christopher B Shaffer, Linda Georges, et al.
Orphanet Journal of Rare Diseases|October 5, 2017
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2008
Initial report from the Hunter Outcome SurveyJ Edmond Wraith, Michael Beck, Roberto Giugliani, et al.
Molecular Genetics and Metabolism|December 23, 2006
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)Joseph Muenzer, Muge Gucsavas-Calikoglu, Shawn E McCandless, et al.
Orphanet Journal of Rare Diseases|October 31, 2021
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)Joseph Muenzer, Jaco Botha, Paul Harmatz, et al.
American Journal of Medical Genetics. Part A|October 23, 2019
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registryDavid Viskochil, Lorne A Clarke, Luisa Bay, et al.
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