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Free Radical Research
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December 8, 2022
Retrograde response to mitochondrial dysfunctions associated to LOF variations in <i>FLAD1</i> exon 2: unraveling the importance of RFVT2
Maria Tolomeo, Guglielmina Chimienti, Martina Lanza, et al.
Molecular Genetics and Metabolism
|
August 4, 2023
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
August 12, 2022
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
July 30, 2023
Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II"
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
August 26, 2022
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
JIMD Reports
|
February 25, 2026
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Journal of Inherited Metabolic Disease
|
September 10, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
January 3, 2021
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
Nicola Longo, George A Diaz, Uta Lichter-Konecki, et al.
JCI Insight
|
August 18, 2017
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease
Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier, et al.
Trials
|
November 18, 2021
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
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of 5
Search research articles
Search
Showing results (21-30 of 47) with videos related to
Sort By:
Page
of 5
Free Radical Research
|
December 8, 2022
Retrograde response to mitochondrial dysfunctions associated to LOF variations in <i>FLAD1</i> exon 2: unraveling the importance of RFVT2
Maria Tolomeo, Guglielmina Chimienti, Martina Lanza, et al.
Molecular Genetics and Metabolism
|
August 4, 2023
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
August 12, 2022
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
July 30, 2023
Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II"
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
August 26, 2022
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
JIMD Reports
|
February 25, 2026
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Journal of Inherited Metabolic Disease
|
September 10, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
January 3, 2021
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
Nicola Longo, George A Diaz, Uta Lichter-Konecki, et al.
JCI Insight
|
August 18, 2017
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease
Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier, et al.
Trials
|
November 18, 2021
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
Page
of 5