Diagnostics of Some Inherited Metabolic Disorders by Mass Spectrometry Using Modern Ionisation Techniques

Autoři

  • P. Frycak Department of Analytical Chemistry, Faculty of Science, Palacky University, Olomouc,
  • K. Lemr Department of Analytical Chemistry, Faculty of Science, Palacky University, Olomouc,
  • T. Adam Laboratory of Inherited Metabolic Disorders, Department of Clinical Chemistry, Medical Hospital, Olomouc
  • R. Huskova Laboratory of Inherited Metabolic Disorders, Department of Clinical Chemistry, Medical Hospital, Olomouc

Abstrakt

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.

Stahování

Publikováno

15.03.2003

Jak citovat

Frycak, P., Lemr, K., Adam, T., & Huskova, R. (2003). Diagnostics of Some Inherited Metabolic Disorders by Mass Spectrometry Using Modern Ionisation Techniques. Chemické Listy, 97(2). Získáno z http://w-ww.chemicke-listy.cz/ojs3/index.php/chemicke-listy/article/view/2250

Číslo

Vol 97 No 2 (2003)

Sekce

Články