title: Adenylosuccinase deficiency presenting with epilepsy in early infancy.
authors.affiliation: Department of Pediatrics, Leiden University Hospital, The Netherlands.
authors.forename: P D
authors.initials: PD
authors.lastname: Maaswinkel-Mooij
authors.forename: L A
authors.initials: LA
authors.lastname: Laan
authors.forename: W
authors.initials: W
authors.lastname: Onkenhout
authors.forename: O F
authors.initials: OF
authors.lastname: Brouwer
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: B J
authors.initials: BJ
authors.lastname: Poorthuis
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D004829:Epilepsy, Generalized / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D010634:Phenobarbital / Q000627:therapeutic use; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology*
chemical_list: D000927:Anticonvulsants; D010634:Phenobarbital