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[Diagnosis of the porphyrias : From A (as in aminolevulinic acid) to Z (as in zinc protoporphyrin)].
- Source :
-
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete [Hautarzt] 2016 Mar; Vol. 67 (3), pp. 201-6. - Publication Year :
- 2016
-
Abstract
- The porphyrias comprise a clinically, biochemically, and genetically heterogeneous group of predominantly hereditary metabolic disorders resulting from a dysfunction along the heme biosynthetic pathway. Whereas most variants can manifest with different cutaneous symptoms, some types only reveal life-threatening acute neurovisceral attacks. Therefore, interdisciplinary care of these patients is advisable. In this article, we provide an overview of characteristic clinical and laboratory findings in the various forms of porphyria and a diagnostic algorithm.
Details
- Language :
- German
- ISSN :
- 1432-1173
- Volume :
- 67
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
- Publication Type :
- Academic Journal
- Accession number :
- 26743052
- Full Text :
- https://doi.org/10.1007/s00105-015-3741-7