Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients
Author:
Affiliation:
1. ; Department of Clinical Biochemistry 1st Faculty of Medicine; Charles University; Prague Czech Republic
2. ; Center for Inherited Metabolic Disorders, 1st Faculty of Medicine; Charles University; Prague Czech Republic
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005361408031/fullpdf
Reference7 articles.
1. Diagnosis of inherited adenylosuccinase by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines;Bree;Clin Chim Acta,1986
2. An infantile autistic syndrome characterized by the presence of succinyl purines in body fluids;Jaeken;Lancet,1984
3. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis;Jaeken;Eur J Paediatr,1988
4. Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose;Salerno;J Inher Metab Dis,1995
5. Screening test for adenylosuccinase deficiency;Šebesta;Screening,1995
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