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Therapeutic Advances in Rare Disease|May 14, 2023
Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational studyAnna-Elisabeth Minder, Jasmin Barman-Aksoezen, Mathias Schmid, et al.
Molecular Genetics and Metabolism|May 12, 2019
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyriaJasmin Barman-Aksözen, Francois Halloy, Pavithra S Iyer, et al.
Scandinavian Journal of Clinical and Laboratory Investigation|June 4, 2019
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyriasJasmin Barman-Aksözen, Lukas Suter, Franziska Wegmann, et al.
Journal of Inherited Metabolic Disease|September 7, 2022
EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptomsDavid Cassiman, Raili Kauppinen, Susana Monroy, et al.
Life (Basel, Switzerland)|September 28, 2023
First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent PorphyriaAdrian Belosevic, Anna-Elisabeth Minder, Morgan Gueuning, et al.
Journal of Hepatology|July 21, 2023
Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trialDavid J Kuter, Herbert L Bonkovsky, Susana Monroy, et al.
Cell Chemical Biology|March 23, 2021
Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyriaFrançois Halloy, Pavithra S Iyer, Alice Ghidini, et al.
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