The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference15 articles.
1. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids;Jaeken;Lancet,1984
2. Misleading behavioural phenotype with adenylosuccinate lyase deficiency;Gitiaux;Eur J Hum Genet,2009
3. Clinical, biochemical and molecular findings in seven polish patients with adenylosuccinate lyase deficiency;Jurecka;Mol Genet Metab,2008
4. Human adenylosuccinate lyase (adsl), cloning and characterization of full-length cdna and its isoform, gene structure and molecular basis for adsl deficiency in six patients;Kmoch;Hum Mol Genet,2000
5. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families;Mouchegh;J Pediatr,2007
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