česky | in English
Name in Czech: AADC deficit, dědičné vzácne onemocnění s poruchou tvorby neurotransmiterů.
Czech. Czech Republic.
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: MUDr. Katarína Česká, Ph.D., učo 477257. Changed: 26/2/2024 14:58.
Name in Czech: AADC-geneticky podmínění deficit neurotransmiterů. Kazuistika jediné pacientky v ČR. Je toto onemocnění vzácnější, než vzácné?
Czech. Czech Republic.
Changed by: MUDr. Katarína Česká, Ph.D., učo 477257. Changed: 26/2/2024 11:01.
Keywords in English: Segawa Syndrome, Dopa Responsive Dystonia, DYT5a, L-DOPA, Tetrahydrobiopterin, GTP-Cyclohydrolase-1
International impact: yes
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 4/12/2023 11:11.
Name (in English): AD GTP-Cyclohydrolase-1 Deficiency (Segawa Syndrome;DYT5a)- Case Repor
English. Czech Republic.
Keywords in English: Segawa Syndrome; Dopa Responsive Dystonia; DYT5a; L-DOPA; Tetrahydrobiopterin; GTP-Cyclohydrolase-1
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 5/4/2024 10:12.
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 4/12/2023 11:24.
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 4/12/2023 11:33.
Czech. Czech Republic.
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: MUDr. Katarína Česká, Ph.D., učo 477257. Changed: 26/2/2024 15:13.
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 4/12/2023 11:22.
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 4/12/2023 11:16.
RIV/00216224:14110/22:00125819 Article in a journal. English. Switzerland.
Macháček, Martin (203 Czech Republic, belonging to the institution) -- Švecová, Olga (203 Czech Republic, belonging to the institution) -- Bébarová, Markéta (203 Czech Republic, guarantor, belonging to the institution)
Keywords in English: arrhythmia; barium; cardiomyocytes; inward rectifier potassium current; sildenafil; synergy
International impact: yes
Reviewed: yes
Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 19/7/2022 08:40.
Name (in English): Aromatic L-amino acid decarboxylase deficiency (AADC-D) in clinical practice
Keywords in English: AADC-D, monoamine neurotransmitters, psychomotor retardation, dystonia, oculogyric crises, gene therapy
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 17/1/2023 14:42.
Name (in English): Aromatic amino acid decarboxylase deficiency (AADC). Perhaps a more common cause of delayed psychomotor development than it might seem
Changed by: MUDr. Lenka Knedlíková, učo 381260. Changed: 29/1/2024 12:11.
Name (in English): Gene therapy of AADC deficiency - a challenge for paediatric neurology in the near future
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 17/1/2023 08:58.
Name (in English): Primary neurotransmitter disorders – as we see them in clinical practice
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 17/1/2023 08:23.
Name (in English): Primary disorders of monoamine neurotransmitter metabolism in clinical practice
Keywords in English: monoamine neurotransmitters, tetrahydrobiopterin, psychomotor retardation, dystonia, AADC-D, gene therapy
Reviewed: yes
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 17/1/2023 08:02.
Name (in English): Primary disorders of neurotransmitter metabolism
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: MUDr. Martin Macháček, učo 446336. Changed: 17/1/2023 08:13.
English. Czech Republic.
Type of participation: active participation (giving a lecture, organization, etc.)
International impact: yes
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 11/11/2022 15:10.
Name (in English): Prolonged effect of sildenafil on nward rectifier potassium currents of cardiomyocytes
Czech. Czech Republic.
Keywords in English: sildenafil, prolonged effect, inward rectifier, cardiomyocyte, patch clamp
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 5/11/2019 16:52.
English. Germany.
Type of participation: active participation (giving a lecture, organization, etc.)
International impact: yes
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 6/11/2018 14:23.
Name (in English): Acute effect of sildenafil on inward rectifier potassium currents in rat ventricular myocytes
Czech. Czech Republic.
Keywords in English: sildenafil, inward rectifier, rat, patch clamp
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 25/1/2019 15:37.
Name (in English): Acute effect of sildenafil on inward rectifier potassium currents in rat ventricular myocytes
Czech. Czech Republic.
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 6/11/2018 13:58.
Name (in English): Combined effect of barium and sildenafil on inward rectifier potassium currents
Czech. Czech Republic.
Keywords in English: barium, sildenafil, inward rectifier, rat, patch clamp
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 25/1/2019 15:32.
Name (in English): Combined effect of barium and sildenafil on inward rectifier potassium currents
Czech. Czech Republic.
Keywords in English: barium, sildenafil, inward rectifier, rat, patch clamp
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 25/1/2019 15:33.
Name (in English): Combined effect of barium and sildenafil on inward rectifier potassium currents
Czech. Czech Republic.
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 8/11/2018 12:29.
Name (in English): Combined effect of barium and sildenafil on inward rectifier potassium currents
Czech. Czech Republic.
Type of participation: active participation (giving a lecture, organization, etc.)
Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 6/11/2018 14:04.