Download full-text PDF

Source

Publication Analysis

Top Keywords

porphyrias office
4
office procedures
4
procedures laboratory
4
laboratory tests
4
tests diagnosis
4
diagnosis porphyrin
4
porphyrin abnormalities
4
porphyrias
1
procedures
1
laboratory
1

Similar Publications

Background And Aims: Orphan diseases, or rare diseases, are defined in Europe as diseases that affect less than 5 out of every 10,000 citizens. Given the small number of cases and the lack of profit potential, pharmaceutical companies have not invested much in the development of possible treatments. However, over the last few years, new therapies for rare diseases have emerged, giving physicians a chance to offer personalized treatment.

View Article and Find Full Text PDF

Terlipressin for hepatorenal syndrome: opportunities and challenges.

Lancet Gastroenterol Hepatol

February 2023

Liver Failure Group, Institute for Liver and Digestive Health, University College London Medical School, London, UK; European Foundation for the Study of Chronic Liver Failure, Barcelona, Spain.

View Article and Find Full Text PDF

The acute hepatic porphyrias.

Transl Gastroenterol Hepatol

April 2021

Department of Medicine, University of California San Francisco, San Francisco, CA, USA.

The acute hepatic porphyrias (AHP) are a group of four inherited diseases of heme biosynthesis. They present with similar severe, episodic, acute neurovisceral symptoms due to abnormally elevated levels of porphyrin precursors delta-aminolevulinic acid (ALA). Recently genetic screening indicates that the prevalence of mutation carrier state is more common than previously thought, occurring in 1 in 1,500, though the clinical penetrance of symptomatic AHP is low at ~1%.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!