Publications by authors named "Herbert Heckers"
Blood Cells Mol Dis
October 2004
Article Synopsis
- Acute intermittent porphyria (AIP) is a rare genetic disorder caused by mutations that lead to a deficiency in the porphobilinogen deaminase enzyme, disrupting heme production and causing varied symptoms.
- A genetic analysis of 20 unrelated individuals identified 20 different mutations in the relevant gene, including 11 new mutations, affecting various parts of the gene structure.
- Early diagnosis and identification of gene carriers in families are crucial for managing AIP, as they can help prevent sudden disease manifestations.
