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Rigshospitalet - en del af Københavns Universitetshospital
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  • Amy Farmer
  • Ségolène Aymé
  • Miguel Lopez de Heredia
  • Pietro Maffei
  • Susan McCafferty
  • Wojciech Młynarski
  • Virginia Nunes
  • Kay Parkinson
  • Véronique Paquis-Flucklinger
  • Julia Rohayem
  • Richard Sinnott
  • Vallo Tillmann
  • Lisbeth Tranebjaerg
  • Timothy G Barrett
Vis graf over relationer
Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research.
OriginalsprogEngelsk
TidsskriftB M C Pediatrics
Vol/bind13
Sider (fra-til)130
ISSN1471-2431
DOI
StatusUdgivet - 2013

ID: 42503092