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Summary
Disease
ARTEFACTS-MEDICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS DD
Gene locus
Summary
elevated 4-hydroxybutyric acid in urine which was later shown to be linked to catheter usage
symptoms
laboratory finding
Metabolite
min
max
Norm. min
Norm. max
unit
specimen
agegroup
4-Hydroxybutyric acid
increased
urine
Literature
Author
Co-Author
Title
society
book
volume
number
pages
Year
Perez-Duenas B,
et al.
Novel features in the evolution of adenylosuccinate lyase deficiency
Eur J Paediatr Neurol
16
4
343-348
2012
