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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
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
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
