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An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

Authors
  • Pérez-Cerdá, C
  • Merinero, B
  • Martí, M
  • Cabrera, J C
  • Peña, L
  • García, M J
  • Gangoiti, J
  • Sanz, P
  • Rodríguez-Pombo, P
  • Hoenicka, J
  • Richard, E
  • Muro, S
  • Ugarte, M
Type
Published Article
Journal
European journal of pediatrics
Publication Date
Jan 01, 1998
Volume
157
Issue
1
Pages
50–52
Identifiers
PMID: 9461363
Source
Medline
License
Unknown

Abstract

Propionic acidaemia can present as a sudden and fatal neurological disease and not only as an organic aciduria with severe biochemical dis-turbances and progressive neurological deterioration.

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