{"controller"=>"catalog", "action"=>"show", "id"=>"240409309"}
  • EN
  • DA

Danish NationalResearch Database

  • Search Publications & Researchers
  • Open Access Indicator
  • Publications
  • Researchers
Example Finds records
water{} containing the word "water".
water supplies"{}" containing the phrase "water supplies".
author:"Doe, John"author:"{}" containing the prase "Doe, John" in the author field.
title:IEEEtitle:{} containing the word "IEEE" in the title field.
Need more help? Advanced search tutorial
  • Selected (0)
  • History

Fabry disease in children

    • Save to Mendeley
    • Export to BibTeX
    • Export to RIS
    • Email citation
Authors:
  • Borgwardt, Line Gutte ;
    Close
    unknown
  • Feldt-Rasmussen, U ;
    Close
    Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
  • Rasmussen, AK ;
    Close
    unknown
  • Ballegaard, M ;
    Close
    unknown
  • Lund, Allan Meldgaard
    Close
    Graduate School of Health and Medical Sciences, Faculty of Health and Medical Sciences, Københavns Universitet
Subtitle:
agalsidase-beta enzyme replacement therapy
DOI:
10.1111/j.1399-0004.2012.01947.x
Abstract:
Fabry disease is a rare, multiorgan disease. The most serious complications involve the kidney, brain and heart. This study aims to assess the effect of enzyme replacement therapy (ERT) using agalsidase-beta in children with Fabry disease. We carried out a nationwide, descriptive and observational retrospective cohort study of 10 children (9-16 years at baseline), who underwent regular systematic investigations for 1-8 years after initiation of ERT with agalsidase-beta (Fabryzyme®, Genzyme). Ophthalmological, echocardiographic abnormalities and hypohidrosis were found at baseline and during the follow-up period. Serious kidney, heart or brain involvement had not developed at the last follow-up examination. For the majority of the patients improvements were found concerning headache, acroparaesthesias and gastrointestinal pain during the follow-up period. The level of energy and physical activity also increased. Treatment with agalsidase-beta was associated with a reduction of neuropathic and abdominal pain and headache. Although all aspects of the Fabry pain phenotype cannot be treated with ERT, the observed effects were clinically significant in the lives of the majority of Fabry children and together with the absence of serious Fabry manifestations at last follow-up, we argue that early initiation of ERT may be considered.
Type:
Journal article
Language:
English
Published in:
Clinical Genetics, 2013, Vol 83, Issue 5, p. 432-38
Keywords:
Journal Article; Research Support, Non-U.S. Gov't
Main Research Area:
Medical science
Publication Status:
Published
Review type:
Peer Review
Submission year:
2013
Scientific Level:
Scientific
ID:
240409309

Full text access

  • Doi Get publisher edition via DOI resolver
Checking for on-site access...

On-site access

At institutions

  • Capital region
  • Copenhagen university.en

Metrics

Feedback

Sitemap

  • Search
    • Statistics
    • Tutorial
    • Data
    • FAQ
    • Contact
  • Open Access
    • Overview
    • Development
    • FAQ
    • Contact
  • About
    • Institutions
    • Release History
    • Cookies and privacy policy

Copyright © 1998–2018.

Fivu en