Misleading behavioural phenotype with adenylosuccinate lyase deficiency
Open Access
- 1 October 2008
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 17 (1), 133-136
- https://doi.org/10.1038/ejhg.2008.174
Abstract
No abstract availableThis publication has 19 references indexed in Scilit:
- Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?Journal of Medical Genetics, 2002
- Adenylosuccinate Lyase Deficiency: From the Clinics to Molecular BiologyAdvances in Experimental Medicine and Biology, 2002
- Angelman syndrome: Mimicking conditions and phenotypesAmerican Journal of Medical Genetics, 2001
- Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.Human Molecular Genetics, 2000
- Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephalyBrain & Development, 2000
- A behavioral neurogenetics approach to developmental disabilitiesCurrent Opinion in Neurology, 1994
- Residual adenylosuccinase activities in fibroblasts of adenylosuccinase‐deficient children: Parallel deficiency with adenylosuccinate and succinyl‐AICAR in profoundly retarded patients and non‐parallel deficiency in a mildly retarded girlJournal of Inherited Metabolic Disease, 1993
- Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesisEuropean Journal of Pediatrics, 1988
- Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: Identification of patients deficient in adenylosuccinate lyase activityAnalytical Biochemistry, 1986
- An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.1984