title: Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, Charles University, Prague, Czech Republic. jzem@lf1.cuni.cz
authors.forename: J
authors.initials: J
authors.lastname: Zeman
authors.forename: J
authors.initials: J
authors.lastname: Krijt
authors.forename: L
authors.initials: L
authors.lastname: Stratilová
authors.forename: H
authors.initials: H
authors.lastname: Hansíková
authors.forename: L
authors.initials: L
authors.lastname: Wenchich
authors.forename: S
authors.initials: S
authors.lastname: Kmoch
authors.forename: P
authors.initials: P
authors.lastname: Chrastina
authors.forename: J
authors.initials: J
authors.lastname: Houstek
mesh_terms: D000241:Adenosine / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid; D000620:Aminoimidazole Carboxamide / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid; D002493:Central Nervous System Diseases / Q000201:enzymology*; D005260:Female; D005649:Fumarate Hydratase / Q000172:deficiency* / Q000235:genetics; D005650:Fumarates / Q000134:cerebrospinal fluid* / Q000652:urine; D006801:Humans; D007223:Infant; D011687:Purines / Q000134:cerebrospinal fluid*; D012263:Ribonucleosides / Q000134:cerebrospinal fluid
chemical_list: D005650:Fumarates; D011687:Purines; D012263:Ribonucleosides; C043566:succinylaminoimidazole carboxamide riboside; D000620:Aminoimidazole Carboxamide; C043565:succinyladenosine; C032005:fumaric acid; D005649:Fumarate Hydratase; D000241:Adenosine