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Nathalie Guffon

HCL Technologies

177

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Single-arm, open-label, phase 2/3 substudy and extension evaluating safety and efficacy of intrathecal idursulfase-IT in patients younger than 3 years old with neuronopathic mucopolysaccharidosis type II

2021 Molecular Genetics and Metabolism
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Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.

2021 The Journal of Pediatrics
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Thérapeutiques actuelles et perspectives

2021 Revue Francophone Des Laboratoires
- Nathalie Guffon
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Children treated with olipudase alfa for chronic acid sphingomyelinase deficiency show meaningful improvement on clinically relevant outcomes and an overall favorable safety profile: 1-year results of the ASCEND-Peds trial

2021 Molecular Genetics and Metabolism
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One-year results of olipudase alfa enzyme replacement therapy in children with chronic visceral and neurovisceral acid sphingomyelinase deficiency

2021 Molecular Genetics and Metabolism
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Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.

2021 Molecular Genetics and Metabolism
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One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.

2021 Genetics in Medicine
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Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis type II: Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT

2021 Molecular Genetics and Metabolism
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Aspects cliniques des mucopolysaccharidoses et oligosaccharidoses

2021 Revue Francophone Des Laboratoires
- Nathalie Guffon
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Safety and efficacy of intrathecal idursulfase-IT in patients <3 years old with neuronopathic mucopolysaccharidosis II: phase 2/3 substudy and extension

2021 Molecular Genetics and Metabolism
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