title: Adenylosuccinase deficiency: a newly recognized variant.
authors.affiliation: Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: F
authors.initials: F
authors.lastname: Van den Bergh
authors.forename: M F
authors.initials: MF
authors.lastname: Vincent
authors.forename: P
authors.initials: P
authors.lastname: Casaer
authors.forename: G
authors.initials: G
authors.lastname: Van den Berghe
mesh_terms: D000241:Adenosine / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid / Q000652:urine; D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D000620:Aminoimidazole Carboxamide / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid / Q000652:urine; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D012263:Ribonucleosides / Q000134:cerebrospinal fluid / Q000652:urine
chemical_list: D012263:Ribonucleosides; C043566:succinylaminoimidazole carboxamide riboside; D000620:Aminoimidazole Carboxamide; C043565:succinyladenosine; D000264:Adenylosuccinate Lyase; D000241:Adenosine