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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.Diabetes Research and Clinical Practice|January 27, 2019
The prevalence of retinopathy in patients with type 1 diabetes treated with education-based intensified insulin therapy and its association with parameters of glucose controlKatja Hatz, Anna Elisabeth Minder, Roger Lehmann, 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.BMJ Open|July 11, 2024
Characteristics and feedback of adult survivors of childhood cancer seen in Swiss comprehensive follow-up clinics led by general internists: a prospective cohort studyEva Maria Eugenia Tinner, Oezcan Dogan, Maria Boesing, 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.Pageof 2