A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

Abstract Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating d...

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Bibliographic Details
Main Authors: Kathryn R. Napier, Megan Tones, Chloe Simons, Helen Heussler, Adam A. Hunter, Meagan Cross, Matthew I. Bellgard
Format: Article
Language:English
Published: BMC 2017-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Angelman syndrome
Disease registry
Global
Interoperable
Open source
Patient reported
Online Access:http://link.springer.com/article/10.1186/s13023-017-0686-1

Internet

http://link.springer.com/article/10.1186/s13023-017-0686-1

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