title: Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.
authors.affiliation: Department of Clinical Biochemistry, 1st Faculty of Medicine, Charles University, Prague, Czech Republic.
authors.forename: I
authors.initials: I
authors.lastname: Sebesta
authors.forename: J
authors.initials: J
authors.lastname: Krijt
authors.forename: S
authors.initials: S
authors.lastname: Kmoch
authors.forename: H
authors.initials: H
authors.lastname: Hartmannová
authors.forename: M
authors.initials: M
authors.lastname: Wojda
authors.forename: J
authors.initials: J
authors.lastname: Zeman
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D018153:Czech Republic; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009422:Nervous System Diseases / Q000201:enzymology / Q000235:genetics* / Q000523:psychology; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics* / Q000523:psychology
chemical_list: D000264:Adenylosuccinate Lyase