Screening tests for adenylosuccinase deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference12 articles.
1. Diagnosis of inherited adenylosuccinase by thin-layer chromatography of urinary imidazoles and by automated cation exchange chromatography of purines;de Bree;Clin Chim Acta,1986
2. The clinical aspects of ASase deficiency;Jaeken,1993
3. An infantile autistic syndrome characterized by the presence of succinyl purines in body fluids;Jaeken;Lancet,1984
4. Adenylosuccinase deficiency: a newly recognized variant;Jaeken;J Inherit Metab Dis,1992
5. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis;Jaeken;Eur J Paediatr,1988
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1. Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots;Clinical Biochemistry;2015-01
2. The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers;Clinical Biochemistry;2013-12
3. Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency;Journal of Child Neurology;2011-12-02
4. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations;Journal of Inherited Metabolic Disease;2010-02-23
5. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency;Molecular Genetics and Metabolism;2008-08
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