EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

BACKGROUND: 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 wel...

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Bibliografski detalji
Glavni autori: Farmer, Amy, Aymé, Ségolène, de Heredia, Miguel Lopez, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes, Virginia, Parkinson, Kay, Paquis-Flucklinger, Véronique, Rohayem, Julia, Sinnott, Richard, Tillmann, Vallo, Tranebjærg, Lisbeth, Barrett, Timothy G
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Correspondence
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3765797/
https://ncbi.nlm.nih.gov/pubmed/23981649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-13-130
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