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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2013
Konular:
Correspondence
Online Erişim: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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