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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2013
Pynciau:
Correspondence
Mynediad Ar-lein: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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