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Publication year
2004Source
Journal of Inherited Metabolic Disease, 27, 2, (2004), pp. 291-3ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Paediatrics - OUD tm 2017
Journal title
Journal of Inherited Metabolic Disease
Volume
vol. 27
Issue
iss. 2
Page start
p. 291
Page end
p. 3
Subject
UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolismAbstract
Deficiency of succinic semialdehyde dehydrogenase (SSADH) is a rare neurometabolic disorder with accumulation of 4-hydroxybutyric acid (4-HBA) as a biochemical hallmark. We present a boy with an unresolved severe neurological disorder and intermittent elevation of 4-HBA in serum and CSF which was later shown to result from iatrogenic administration of 4-HBA for sedation purposes.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122544]
- Faculty of Medical Sciences [90373]
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