Article
The porphyrias: advances in diagnosis and treatment
2012-12-08
Abstract excerpt
Abstract The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as “acute hepatic,” “hepatic cutaneous,” and “erythropoietic cutaneous” diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the porphyrias,...
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Identifiers and source
- Literature Corpus work
- f61343e3-3949-5d8a-89de-0773c8515e84
- DOI
- 10.1182/asheducation.v2012.1.19.3795678