Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Techniques in diagnostic human biochemical genetics

Emmanuel Shapira · Europe PMC (PubMed Central) · 1991 · 351 citations

Genetic Analysis, Genetic Testing, Molecular Diagnostic Techniques +7

An Infantile Autistic Syndrome Characterized By the Presence of Succinyl Purines in Body-fluids

J Jaeken, Georges Berghe · Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B)) · 1984 · 245 citations

Allergy, Syndromic Autism, Succinyl Purines +3

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

Jaak Jaeken, S. K. Wadman, M. Durán et al. · European Journal of Pediatrics · 1988 · 125 citations

Biosynthesis, Biochemistry, Genetic Disorder +7

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features

Randy L. Stone, Junko Aimi, Bruce A. Barshop et al. · Nature Genetics · 1992 · 123 citations

Biology, Mendelian Disorder, Genetic Disorder +8

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

Stanislav Kmoch · Human Molecular Genetics · 2000 · 92 citations