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Description
  • The review deals with the progress in the diagnostics of inherited metabolic disorders by mass spectrometry in the last decade. It is focused on the atmospheric pressure ionisation techniques, i.e. electrospray ionisation and atmospheric pressure chemical ionisation. The first part of the article describes very briefly the molecular causes of inherited metabolic disorders, such as disorders of metabolisms of fatty acids, amino acids, bile acids, purine and pyrimidine and related metabolites. The other part describes the procedures from sampling over the analysis itself to the raw data evaluation.
  • The review deals with the progress in the diagnostics of inherited metabolic disorders by mass spectrometry in the last decade. It is focused on the atmospheric pressure ionisation techniques, i.e. electrospray ionisation and atmospheric pressure chemical ionisation. The first part of the article describes very briefly the molecular causes of inherited metabolic disorders, such as disorders of metabolisms of fatty acids, amino acids, bile acids, purine and pyrimidine and related metabolites. The other part describes the procedures from sampling over the analysis itself to the raw data evaluation. (en)
Title
  • Diagnostics of some inherited metabolic disorders by mass spectrometry using modern ionisation techniques
  • Diagnostics of some inherited metabolic disorders by mass spectrometry using modern ionisation techniques (en)
  • Diagnostics of some inherited metabolic disorders by mass spectrometry using modern ionisation techniques (cs)
skos:prefLabel
  • Diagnostics of some inherited metabolic disorders by mass spectrometry using modern ionisation techniques
  • Diagnostics of some inherited metabolic disorders by mass spectrometry using modern ionisation techniques (en)
  • Diagnostics of some inherited metabolic disorders by mass spectrometry using modern ionisation techniques (cs)
skos:notation
  • RIV/61989592:15410/03:00001358!RIV/2004/MSM/154104/N
http://linked.open.../vavai/riv/strany
  • 93-100
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM 153100013)
http://linked.open...iv/cisloPeriodika
  • 2
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 603600
http://linked.open...ai/riv/idVysledku
  • RIV/61989592:15410/03:00001358
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Diagnostics; metabolic disorders; mass spectrometry; (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • CZ - Česká republika
http://linked.open...ontrolniKodProRIV
  • [171B26A167A2]
http://linked.open...i/riv/nazevZdroje
  • Chemické listy
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...ocetUcastnikuAkce
http://linked.open...nichUcastnikuAkce
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 97
http://linked.open...iv/tvurceVysledku
  • Lemr, Karel
  • Adam, Tomáš
  • Fryčák, Petr
  • Hušková, Renata
http://linked.open...n/vavai/riv/zamer
issn
  • 0009-2770
number of pages
http://localhost/t...ganizacniJednotka
  • 15410
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