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Description
| - Some epileptic seizures are related to metabolic disorders affecting availability of pyridoxal-phosphate (PLP). Pyridoxine dependent epilepsy is caused by increase in the PLP utilization/inactivation and is associated with mutations in the ALDH7A1 and ALDH4A1 genes. PLP dependent epilepsy is caused by reduction of the PLP synthesis due to pyridoxamine 5’-phosphate oxidase deficiency. This enzyme converts pyridoxine and pyridoxamine to the PLP. The PLP prosthetic group of some enzymes is responsible for amino acid metabolism. Pyridoxine and PLP dependent epilepsies can be diagnosed by the molecular analysis of the respective genes, by the determination of reliable biomarkers in different biological fluids and by the amino acid profiling giving supplementary data. Levels of glycine, L-proline and trans-4-hydroxy-L-proline appear to be the most valid amino acids for diagnostic purposes of pyridoxine and PLP dependent epilepsies.
- Some epileptic seizures are related to metabolic disorders affecting availability of pyridoxal-phosphate (PLP). Pyridoxine dependent epilepsy is caused by increase in the PLP utilization/inactivation and is associated with mutations in the ALDH7A1 and ALDH4A1 genes. PLP dependent epilepsy is caused by reduction of the PLP synthesis due to pyridoxamine 5’-phosphate oxidase deficiency. This enzyme converts pyridoxine and pyridoxamine to the PLP. The PLP prosthetic group of some enzymes is responsible for amino acid metabolism. Pyridoxine and PLP dependent epilepsies can be diagnosed by the molecular analysis of the respective genes, by the determination of reliable biomarkers in different biological fluids and by the amino acid profiling giving supplementary data. Levels of glycine, L-proline and trans-4-hydroxy-L-proline appear to be the most valid amino acids for diagnostic purposes of pyridoxine and PLP dependent epilepsies. (en)
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Title
| - Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis
- Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis (en)
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skos:prefLabel
| - Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis
- Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis (en)
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skos:notation
| - RIV/00216224:14310/12:00057846!RIV13-GA0-14310___
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http://linked.open...avai/predkladatel
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(GAP206/11/0009), P(GBP206/12/G014)
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00216224:14310/12:00057846
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - pyridoxine dependent epilepsy; capillary electrophoresis; contactless conductivity detection (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...ontrolniKodProRIV
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http://linked.open...v/mistoKonaniAkce
| - Hotel Continental, Brno, Czech Republic
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http://linked.open...i/riv/mistoVydani
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http://linked.open...i/riv/nazevZdroje
| - 9th International Interdisciplinary Meeting on Bioanalysis
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...iv/tvurceVysledku
| - Glatz, Zdeněk
- Musilová, Jindra
- Zeisbergerová, Marta
- Celá, Andrea
- Mádr, Aleš
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http://linked.open...vavai/riv/typAkce
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http://linked.open.../riv/zahajeniAkce
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number of pages
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http://purl.org/ne...btex#hasPublisher
| - Institute of Analytical Chemistry AS CR, v. v. i., Veveří 97, 602 00 Brno
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https://schema.org/isbn
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http://localhost/t...ganizacniJednotka
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is http://linked.open...avai/riv/vysledek
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