. "3"^^ . "P(GA301/07/0600), Z(MSM0021620806)" . . . . "adenylosuccinate lyase; purine metabolism; SAICAriboside; succinyladenosine epileptic encephalopathy; psychomotor retardation with autistic; features"@en . . "Krijt, Jakub" . . . "4" . "Kmoch, Stanislav" . . "Klinick\u00E1, biochemick\u00E1 a molekul\u00E1rn\u00ED studie sedmi polsk\u00FDch pacient\u016F s deficitem adenylosukcin\u00E1tly\u00E1zy"@cs . . "Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency"@en . . "Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency" . . . "000257935000009" . . . "360134" . . . "Zik\u00E1nov\u00E1, Marie" . "Klinick\u00E1, biochemick\u00E1 a molekul\u00E1rn\u00ED studie sedmi polsk\u00FDch pacient\u016F s deficitem adenylosukcin\u00E1tly\u00E1zy"@cs . "RIV/00216208:11110/08:1773!RIV09-MSM-11110___" . "94" . "In this study we report diagnostics of seven Polish patients with adenylosuccinate lyase deficiency based on metabolite profiling, enzyme activity measurements, mutation analysis and recombinant protein characterisation"@en . "Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency" . . "1096-7192" . "Molecular Genetics and Metabolism" . "RIV/00216208:11110/08:1773" . . "10"^^ . . "In this study we report diagnostics of seven Polish patients with adenylosuccinate lyase deficiency based on metabolite profiling, enzyme activity measurements, mutation analysis and recombinant protein characterisation" . "Diagn\u00F3za deficitu adenylosukcin\u00E1tly\u00E1zy u sedmi polsk\u00FDch pacient\u016F na z\u00E1klad\u011B stanoven\u00ED metabolit\u016F, m\u011B\u0159en\u00ED enzymov\u00E9 aktivity, anal\u00FDzy mutac\u00ED a charakterizace rekombinantn\u00EDch protein\u016F."@cs . "[83F78D207615]" . . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . . "8"^^ . "Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency"@en . . "11110" .