title: Adenylosuccinate lyase deficiency in a Czech girl and two siblings.
authors.affiliation: Centre for Metabolic Disorders, Charles University, Prague.
authors.forename: J
authors.initials: J
authors.lastname: Krijt
authors.forename: I
authors.initials: I
authors.lastname: Sebesta
authors.forename: A
authors.initials: A
authors.lastname: Svehlakova
authors.forename: A
authors.initials: A
authors.lastname: Zumrova
authors.forename: J
authors.initials: J
authors.lastname: Zeman
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency* / Q000235:genetics; D000620:Aminoimidazole Carboxamide / Q000031:analogs & derivatives / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D012265:Ribonucleotides / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D012436:S-Adenosylmethionine / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine
chemical_list: D012265:Ribonucleotides; D000620:Aminoimidazole Carboxamide; D012436:S-Adenosylmethionine; D000264:Adenylosuccinate Lyase; C020635:SAICAR