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Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development

Abstract Background Angelman syndrome (AS) is a rare, heterogenous neurogenetic condition, which significantly impacts the lives of people with AS and their families. Valid and reliable measures reporting key symptoms and functional impairments of AS are required to support development of patient-ce...

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Bibliografiske detaljer
Principais autores: Siobhan Connor-Ahmad, Jorrit Tjeertes, Michael Chladek, Louise Newton, Tara Symonds, Susanne Clinch, Brenda Vincenzi, Fiona McDougall
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2023-06-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Online adgang:https://doi.org/10.1186/s13023-023-02729-y
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