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Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

Roeleveld-Versteegh, Angelique B.C. ; Braun, K. P.J. ; Smeitink, J. A.M. ; Dorland, L. and de Koning, T. J. LU (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.

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author
; ; ; and
publishing date
type
Contribution to journal
publication status
published
in
Journal of Inherited Metabolic Disease
volume
27
issue
2
pages
3 pages
publisher
Springer
external identifiers
  • scopus:2942592498
  • pmid:15243985
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
2025-10-14 10:47:16
@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}},
}