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Rigshospitalet - a part of Copenhagen University Hospital
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

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DOI

  1. Antibiotic prescribing in paediatric inpatients in Ghana: a multi-centre point prevalence survey

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Maternal thyroid disorder in pregnancy and risk of cerebral palsy in the child: a population-based cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Leisure time physical activity in 9- to 11-year-old children born moderately preterm: a cohort study

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  4. Childhood asthma and physical activity: a systematic review with meta-analysis and Graphic Appraisal Tool for Epidemiology assessment

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  5. Social, dietary and clinical correlates of oedema in children with severe acute malnutrition: a cross-sectional study

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  1. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Functional Assessment of Variants Associated with Wolfram Syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

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  4. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Research output: Contribution to journalLetterResearchpeer-review

  • Amy Farmer
  • Ségolène Aymé
  • Miguel Lopez de Heredia
  • Pietro Maffei
  • Susan McCafferty
  • Wojciech Młynarski
  • Virginia Nunes
  • Kay Parkinson
  • Véronique Paquis-Flucklinger
  • Julia Rohayem
  • Richard Sinnott
  • Vallo Tillmann
  • Lisbeth Tranebjaerg
  • Timothy G Barrett
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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.
Original languageEnglish
JournalB M C Pediatrics
Volume13
Pages (from-to)130
ISSN1471-2431
DOIs
Publication statusPublished - 2013

ID: 42503092