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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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Библиографические подробности
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2013
Предметы:
Online-ссылка: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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