Adenylosuccinase deficiency presenting with epilepsy in early infancy
Author:
Affiliation:
1. ; Department of Pediatrics; Leiden University Hospital; Leiden The Netherlands
2. ; Department of Neurology; Leiden University Hospital; Leiden The Netherlands
3. ; Department of Pediatrics; University Hospital Gasthuisberg; Leuven Belgium
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005323512982/fullpdf
Reference2 articles.
1. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis;Jaeken;Eur J Pediatr,1988
2. Urine test for adenylosuccinase deficiency in autistic children;Maddocks;Lancet,1989
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