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

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Harvard

Farmer, A, Aymé, S, de Heredia, ML, Maffei, P, McCafferty, S, Młynarski, W, Nunes, V, Parkinson, K, Paquis-Flucklinger, V, Rohayem, J, Sinnott, R, Tillmann, V, Tranebjaerg, L & Barrett, TG 2013, 'EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome' B M C Pediatrics, vol. 13, pp. 130. https://doi.org/10.1186/1471-2431-13-130

APA

Farmer, A., Aymé, S., de Heredia, M. L., Maffei, P., McCafferty, S., Młynarski, W., ... Barrett, T. G. (2013). EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. B M C Pediatrics, 13, 130. https://doi.org/10.1186/1471-2431-13-130

CBE

Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W, Nunes V, Parkinson K, Paquis-Flucklinger V, Rohayem J, Sinnott R, Tillmann V, Tranebjaerg L, Barrett TG. 2013. EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. B M C Pediatrics. 13:130. https://doi.org/10.1186/1471-2431-13-130

MLA

Vancouver

Author

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 ; Tranebjaerg, Lisbeth ; Barrett, Timothy G. / EURO-WABB : an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. In: B M C Pediatrics. 2013 ; Vol. 13. pp. 130.

Bibtex

@article{b9d8d3fa058a47ab8c559ddb6c70c71d,
title = "EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstr{\"o}m syndrome and Bardet-Biedl syndrome",
abstract = "Wolfram, Alstr{\"o}m 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.",
author = "Amy Farmer and S{\'e}gol{\`e}ne Aym{\'e} and {de Heredia}, {Miguel Lopez} and Pietro Maffei and Susan McCafferty and Wojciech Młynarski and Virginia Nunes and Kay Parkinson and V{\'e}ronique Paquis-Flucklinger and Julia Rohayem and Richard Sinnott and Vallo Tillmann and Lisbeth Tranebjaerg and Barrett, {Timothy G}",
year = "2013",
doi = "10.1186/1471-2431-13-130",
language = "English",
volume = "13",
pages = "130",
journal = "BMC Pediatrics",
issn = "1471-2431",
publisher = "BioMed Central Ltd",

}

RIS

TY - JOUR

T1 - EURO-WABB

T2 - an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

AU - Farmer, Amy

AU - Aymé, Ségolène

AU - de Heredia, Miguel Lopez

AU - Maffei, Pietro

AU - McCafferty, Susan

AU - Młynarski, Wojciech

AU - Nunes, Virginia

AU - Parkinson, Kay

AU - Paquis-Flucklinger, Véronique

AU - Rohayem, Julia

AU - Sinnott, Richard

AU - Tillmann, Vallo

AU - Tranebjaerg, Lisbeth

AU - Barrett, Timothy G

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

U2 - 10.1186/1471-2431-13-130

DO - 10.1186/1471-2431-13-130

M3 - Journal article

VL - 13

SP - 130

JO - BMC Pediatrics

JF - BMC Pediatrics

SN - 1471-2431

ER -

ID: 42503092