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Sanfilippo Children's Foundation

Alternate names: Sanfilippo, Sanfilippo CFoundtn
ROR: 02tqs3p69
OpenAlex ID: I4405269019
Sanfilippo syndrome: consensus guidelines for clinical care
2022 · Nicole Muschol, Roberto Giugliani, et al. · Orphanet Journal of Rare Diseases · 66
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Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses
2024 · Joseph Muenzer, Carole Ho, et al. · Molecular Genetics and Metabolism · 22
Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks
2026 · Paris Mazzachi, Ella McDonald, et al. · Nature Communications · 4
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Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges
2026 · Joseph Muenzer, Mark Dant, et al. · Molecular Genetics and Metabolism · 2
Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia
2026 · Zarina Greenberg, Ella McDonald, et al. · Nature Communications · 1
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Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure
2014 · JIll Wood, Stuart Siedman, et al. · Molecular Genetics and Metabolism · 1
Data priorities of an international community to support research and improve Sanfilippo syndrome outcomes
2025 · Kerren Hosking, Lisa Melton, et al. · Molecular Genetics and Metabolism
Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome
2023 · Cara O'Neill, Roberto Giugliani, et al. · Molecular Genetics and Metabolism
Works count: 8
Citation count: 238
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