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- Title
The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies.
- Authors
van Serooskerken, van Tuyll; Frank, Poblete-Gutiérrez
- Abstract
AbstractThe porphyrias are clinically and genetically heterogeneous metabolic disorders resulting from a predominantly hereditary dysfunction of specific enzymes involved in heme biosynthesis. Today, the clinical, biochemical, and genetic characteristics of this fascinating group of diseases are well established. Recently, different in vitro and animal models have facilitated the investigation of etiopathologic mechanisms in the different types of porphyria and the development of causal treatment strategies such as pathway interference, enzyme replacement, and gene therapy. The continuous progress in basic science has made an invaluable contribution to the rapid translation of discoveries made in the laboratory into new diagnostics and therapeutics in the near future.Copyright © 2010 S. Karger AG, Basel
- Subjects
PORPHYRIA; METABOLIC disorders; BIOSYNTHESIS; ANIMAL disease models; GENETIC translation; THERAPEUTICS; GENE therapy; DIAGNOSIS
- Publication
Skin Pharmacology & Physiology, 2010, Vol 23, Issue 1, p18
- ISSN
1660-5527
- Publication type
Article
- DOI
10.1159/000257260