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PKU in Slovakia -Mutation Screening and Haplotype analysis
Title PKU in Slovakia -Mutation Screening and Haplotype analysis Author Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Co-authors Poláková Helena SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Feráková E. Hudecová Soňa 1956- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Bohusova T. Szomolayova I. Strnova J. Hruškovič Ivan Moschonas N.K. Ferák Vladimír Source document Human Genetics. Vol. 95, no. 1 (1995), p. 112-114 Language eng - English Country US - United States of America Document kind rozpis článkov z periodík (rbx) Citations STERL, Elisabeth - PAUL, Karl - PASCHKE, Eduard - ZSCHOCKE, Johannes - BRUNNER-KRAINZ, Michaela - WINDISCH, Eva - KONSTANTOPOULOU, Vassiliki - MOESLINGER, Dorothea - KARALL, Daniela - SCHOLL-BUERGI, Sabine - SPERL, Wolfgang - LAGLER, Florian - PLECKO, Barbara. Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. In JOURNAL OF INHERITED METABOLIC DISEASE. ISSN 0141-8955, 2013, vol. 36, no. 1, pp. 7. BIK-MULTANOWSKI, Miroslaw - KALUZNY, Lukasz - MOZRZYMAS, Renata - OLTARZEWSKI, Mariusz - STAROSTECKA, Ewa - LANGE, Agata - DIDYCZ, Bozena - GIZEWSKA, Maria - ULEWICZ-FILIPOWICZ, Jolanta - CHROBOT, Agnieszka - MIKOLUC, Bozena - SZYMCZAKIEWICZ-MULTANOWSKA, Agnieszka - CICHY, Wojciech - PIETRZYK, Jacek J. Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. In ACTA BIOCHIMICA POLONICA. ISSN 0001-527X, 2013, vol. 60, no. 4, pp. 613. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 1995 
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rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 1995
Number of the records: 1