Raili Kauppinen
Helsinki, Finland
Last Updated: 09/26/2026
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Found 19 publications
Guidelines for the management of acute porphyria: recommendations from the International Porphyria Network.
Journal: The Lancet. Haematology
Published: November 28, 2025
Long-term complications in acute porphyria.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: January 09, 2024
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Journal: American journal of human genetics
Published: March 07, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Journal: bioRxiv : the preprint server for biology
Published: February 17, 2023
Pathogenesis of acute encephalopathy in acute hepatic porphyria.
Journal: Journal of neurology
Published: September 05, 2022
Effects of rifampicin on porphyrin metabolism in healthy volunteers.
Journal: Basic & clinical pharmacology & toxicology
Published: August 10, 2022
EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.
Journal: Journal of inherited metabolic disease
Published: May 26, 2022
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.
Journal: Molecular genetics and metabolism reports
Published: January 21, 2022
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
Journal: The New England journal of medicine
Published: June 11, 2020
Penetrance and predictive value of genetic screening in acute porphyria.
Journal: Molecular genetics and metabolism
Published: October 03, 2019
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Journal: Hepatology (Baltimore, Md.)
Published: May 10, 2019
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 28, 2019
Last Updated: 09/26/2026