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J Pers Med
February 2023
Clinical Neurosciences Department, University of Medicine and Pharmacy "Carol Davila" Bucharest, 050474 Bucharest, Romania.
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 PDFLancet 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.
Clin Chem
October 2022
Chairman INSTAND e.V., Ubierstraße 20, 40223 Düsseldorf, Germany.
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 PDFTransl Gastroenterol Hepatol
January 2021
Department of Medicine, University of SD Sanford School of Medicine, Sioux Falls, SD, USA.
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