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Barbara K. Burton

Children's Memorial Hospital
Northwestern University
Wake Forest University

317

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8321

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Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene.

2021 American Journal of Ophthalmology Case Reports
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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.

2021 Molecular Genetics and Metabolism
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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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Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review

2021 European Endocrinology
- Joshua J. Baker
- Barbara K. Burton
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Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.

2021 Molecular Genetics and Metabolism
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Fast Facts: Long-Chain Fatty Acid Oxidization Disorders: Understand, identify and support

2021
- Barbara K. Burton
- Anne Daly
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Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.

2021 Clinical and Translational Science
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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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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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Intrathecal idursulfase-IT safety and efficacy in patients with neuronopathic mucopolysaccharidosis II: phase 2/3 extension study 3-year results

2021 Molecular Genetics and Metabolism
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