Mitochondrial Disorders. A Diagnostic Challenge in Clinical Chemistry
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Matthias F. Bauer
Abstract
Mitochondria play a pivotal role in cellular metabolism and in energy production in particular. Defects in structure or function of mitochondria, mainly involving the oxidative phosphorylation (OXPHOS), mitochondrial biogenesis and other metabolic pathways, have been shown to be associated with a wide spectrum of clinical phenotypes. The ubiquitous nature of mitochondria and their unique genetic features contribute to the clinical, biochemical and genetic heterogeneity of mitochondrial diseases. We will focus on the recent advances in the field of mitochondrial disorders and their consequences for an advanced clinical and genetic diagnostics. In addition, an overview on recently identified genetic defects and their pathogenic molecular mechanisms will be given.
Copyright © 1999 by Walter de Gruyter GmbH & Co. KG
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Artikel in diesem Heft
- Artificial Neural Networks in Laboratory Medicine and Medical Outcome Prediction
- Mitochondrial Disorders. A Diagnostic Challenge in Clinical Chemistry
- Enrichment of Mutant Alleles by Chromatographic Removal of Wild Type Alleles: a New Principle for the Detection of Alleles with Unknown Point Mutations at Excess of Wild Type Alleles
- Quantitative Differences between Aberrant Transcripts Which Occur as Common Isoforms and due to Mutation-based Exon Skipping of the Mismatch Repair Gene hMLH1
- Analytical and Clinical Performance of Two Cardiac Troponin I Immunoassays
- Development of an Automated Immunoturbidimetric Ferritin Assay
- Does the Uncertainty of Commonly Performed Glucose Measurements Allow Identification of Individuals at High Risk for Diabetes?
- Autoantibodies against Oxidized LDL in the First Phase of Life
- Recommendations of the German Working Group on Medical Laboratory Testing (AML) on the Introduction and Quality Assurance of Procedures for Point-of-Care Testing (POCT) in Hospitals
- Assays for Serum Amyloid A (SAA)
- Practical Introduction to GC/MS Analysis with Quadrupoles, by Michael Oehme
- The Hitchhikers Guide to Effective Time Management, by Christopher S. Frings
