title: Adenylosuccinate lyase deficiency: an update.
authors.affiliation: Laboratory of Physiological Chemistry, University of Louvain Medical School, Brussels.
authors.forename: G
authors.initials: G
authors.lastname: Van den Berghe
authors.forename: F
authors.initials: F
authors.lastname: Van den Bergh
authors.forename: M F
authors.initials: MF
authors.lastname: Vincent
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency* / Q000378:metabolism*; D005347:Fibroblasts / Q000201:enzymology; D005561:Formates / Q000378:metabolism; D006801:Humans; D019271:Hypoxanthine; D007042:Hypoxanthines / Q000378:metabolism; D011685:Purine Nucleotides / Q000378:metabolism; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology*; D012016:Reference Values; D012867:Skin / Q000378:metabolism
chemical_list: D005561:Formates; D007042:Hypoxanthines; D011685:Purine Nucleotides; C030544:formic acid; D019271:Hypoxanthine; D000264:Adenylosuccinate Lyase