Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report
Published inNeuropediatrics, vol. 45, no. 1, p. 64-68
Publication date2014
Abstract
Keywords
- Brain Diseases, Metabolic/diagnosis/drug therapy
- Humans
- Hypoxia-Ischemia, Brain/diagnosis/drug therapy
- Infant, Premature
- Infant, Premature, Diseases/diagnosis/drug therapy
- Male
- Phosphoric Monoester Hydrolases/therapeutic use
- Pyridoxaminephosphate Oxidase/deficiency
- Seizures/diagnosis/drug therapy
- Treatment Outcome
Affiliation entities
Citation (ISO format)
PORRI, Stéphanie et al. Positive outcome following early diagnosis and treatment of pyridoxal-5′-phosphate oxidase deficiency: a case report. In: Neuropediatrics, 2014, vol. 45, n° 1, p. 64–68. doi: 10.1055/s-0033-1353489
Main files (1)
Article (Published version)
Identifiers
- PID : unige:48446
- DOI : 10.1055/s-0033-1353489
- PMID : 24297574
Journal ISSN0174-304X