Search results
Title The Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis Author Krchňák Maroš SAVCHEM - Chemický ústav SAV Co-authors Kodríková Rebeka SAVCHEM - Chemický ústav SAV Matulová Mária 1954- SAVCHEM - Chemický ústav SAV Nemčovič Marek 1973- SAVCHEM - Chemický ústav SAV Uhliariková Iveta 1974- SAVCHEM - Chemický ústav SAV Katrlík Jaroslav 1969 SAVCHEM - Chemický ústav SAV Šaligová Anna Hlavatá Anna Juríčková Katarína Baráth Peter 1972- SAVCHEM - Chemický ústav SAV Mucha Ján 1952- SAVCHEM - Chemický ústav SAV Pakanová Zuzana 1988- SAVCHEM - Chemický ústav SAV Source document Frontiers in Bioscience-Landmark. Vol. 28, no.2 (2023), Art. no. 39 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 2023 DOI 10.31083/j.fbl2802039 URL URL link File name Access Size Downloaded Type License The Application of HPLC-FLD and NMR in the Monitoring of.pdf available 2.9 MB 2 Publisher's version 
CC BY 4.0
article
Title A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotype Author Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Co-authors Staník Juraj SAVBIOMED - Biomedicínske centrum SAV Brennerová Katarína Daniš Daniel 1989 SAVBIOMED - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzduch Vladimir Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Action APVV-0107-12. Molekulárno-genetický výskum s farmakogenetickými konsekvenciami u detí s hyperinzulinemickými hypoglykémiami : 2013-2017 : BMC-ÚEE Source document ESHG 2017 : European Human Genetics Conference. P. P06.14B. - : ESHG European Society of Human Genetics, 2017 ; European Human Genetics Conference ESHG 2017 Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 article
Title A novel HNF4A mutation c. 427-1G A causing congenital hyperinsulinism and glycogenosis - like phenotype Author Staník Juraj SAVBIOMED - Biomedicínske centrum SAV Co-authors Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Brennerová Katarína Daniš Daniel 1989 SAVBIOMED - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzduch Vladimir Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Action APVV-0107-12. Molekulárno-genetický výskum s farmakogenetickými konsekvenciami u detí s hyperinzulinemickými hypoglykémiami : 2013-2017 : BMC-ÚEE Source document Genetics of diabetes and its role in precision medicine : 6th EASD - SGGD meeting. P. 120. - Leiden : Leiden University Medical Center, 2017 ; EASD - SGGD meeting Genetics of diabetes and its role in precision medicine Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 article
Title A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotype Author Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Co-authors Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Brennerová Katarína Daniš Daniel 1989 SAVBIOMED - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzduch Vladimir Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Staník Juraj SAVBIOMED - Biomedicínske centrum SAV Action APVV-0107-12. Molekulárno-genetický výskum s farmakogenetickými konsekvenciami u detí s hyperinzulinemickými hypoglykémiami : 2013-2017 : BMC-ÚEE Source document Genomics of rare disease : abstract book. P. 15. - Hinxton, 2017 ; Genomics of rare disease Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 article
Title Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation Author Staník Juraj SAVBIOMED - Biomedicínske centrum SAV Co-authors Škopková Martina Brennerová Katarína Daniš Daniel 1989 SAVBIOMED - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzdúch Vladimír Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Action APVV-0107-12. Molekulárno-genetický výskum s farmakogenetickými konsekvenciami u detí s hyperinzulinemickými hypoglykémiami : 2013-2017 : BMC-ÚEE Source document Diabetes Research and Clinical Practice. Vol. 126 (2017) p. 144-150 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 2017 DOI 10.1016/j.diabres.2017.02.014 article