Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
(2004) In Journal of Inherited Metabolic Disease 27(2). p.281-283- Abstract
We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in the differential diagnosis of this rare clinical entity.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/7d3b787f-9005-4193-afc8-91126cc4b732
- author
- Roeleveld-Versteegh, Angelique B.C. ; Braun, K. P.J. ; Smeitink, J. A.M. ; Dorland, L. and de Koning, T. J. LU
- publishing date
- 2004-06-23
- type
- Contribution to journal
- publication status
- published
- in
- Journal of Inherited Metabolic Disease
- volume
- 27
- issue
- 2
- pages
- 3 pages
- publisher
- Springer
- external identifiers
-
- pmid:15243985
- scopus:2942592498
- ISSN
- 0141-8955
- DOI
- 10.1023/B:BOLI.0000028836.91788.30
- language
- English
- LU publication?
- no
- id
- 7d3b787f-9005-4193-afc8-91126cc4b732
- date added to LUP
- 2020-03-03 19:06:28
- date last changed
- 2024-01-02 07:00:35
@article{7d3b787f-9005-4193-afc8-91126cc4b732, abstract = {{<p>We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in the differential diagnosis of this rare clinical entity.</p>}}, author = {{Roeleveld-Versteegh, Angelique B.C. and Braun, K. P.J. and Smeitink, J. A.M. and Dorland, L. and de Koning, T. J.}}, issn = {{0141-8955}}, language = {{eng}}, month = {{06}}, number = {{2}}, pages = {{281--283}}, publisher = {{Springer}}, series = {{Journal of Inherited Metabolic Disease}}, title = {{Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood}}, url = {{http://dx.doi.org/10.1023/B:BOLI.0000028836.91788.30}}, doi = {{10.1023/B:BOLI.0000028836.91788.30}}, volume = {{27}}, year = {{2004}}, }