Pyruvate dehydrogenase deficiency.
Pyruvatdehydrogenase-mangel.
Journal
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
ISSN: 0807-7096
Titre abrégé: Tidsskr Nor Laegeforen
Pays: Norway
ID NLM: 0413423
Informations de publication
Date de publication:
22 10 2019
22 10 2019
Historique:
pubmed:
24
10
2019
medline:
21
12
2019
entrez:
24
10
2019
Statut:
epublish
Résumé
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease leading to energy deficiency in the cells. This particularly affects the central nervous system, resulting in a broad range of neurological symptoms.
Identifiants
pubmed: 31642628
pii: 18-0988
doi: 10.4045/tidsskr.18.0988
doi:
Substances chimiques
Pyruvate Dehydrogenase Complex
0
Dichloroacetic Acid
9LSH52S3LQ
Thiamine
X66NSO3N35
Types de publication
Journal Article
Review
Langues
nor
Sous-ensembles de citation
IM