Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria
Halloy, François, Iyer, Pavithra S., Ghidini, Alice, Lysenko, Veronika, Barman-Aksözen, Jasmin, Grubenmann, Chia-Pei, Jucker, Jessica, Wildner-Verhey van Wijk, Nicole, Ruepp, Marc-David, Minder, Elisabeth I., Minder, Anna-Elisabeth, Schneider-Yin, Xiaoye, Theocharides, Alexandre P.A., Schümperli, Daniel, Hall, Jonathan
Published in Cell chemical biology (19.08.2021)
Published in Cell chemical biology (19.08.2021)
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Journal Article
Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria
Minder, Anna-Elisabeth, Schneider-Yin, Xiaoye, Zulewski, Henryk, Minder, Christoph E, Minder, Elisabeth I
Published in Life (Basel, Switzerland) (01.04.2023)
Published in Life (Basel, Switzerland) (01.04.2023)
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Journal Article
Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management
Minder, Anna‐Elisabeth, Kluijver, Louisa G., Barman‐Aksözen, Jasmin, Minder, Elisabeth I., Langendonk, Janneke G.
Published in Liver international (16.07.2024)
Published in Liver international (16.07.2024)
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Journal Article
Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria
Halloy, François, Iyer, Pavithra S, Ćwiek, Paulina, Ghidini, Alice, Barman-Aksözen, Jasmin, Wildner-Verhey van Wijk, Nicole, Theocharides, Alexandre P A, Minder, Elisabeth I, Schneider-Yin, Xiaoye, Schümperli, Daniel, Hall, Jonathan
Published in Nucleic acids research (21.05.2020)
Published in Nucleic acids research (21.05.2020)
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Journal Article
Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy
Collaud, Edwige, Wittwer, Luis, Minder, Anna-Elisabeth, Annoni, Jean-Marie, Minder, Elisabeth I., Chabwine, Joelle N.
Published in Frontiers in genetics (31.10.2022)
Published in Frontiers in genetics (31.10.2022)
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Journal Article
Effectiveness of Metyrapone in Treating Cushing's Syndrome: A Retrospective Multicenter Study in 195 Patients
Daniel, Eleni, Aylwin, Simon, Mustafa, Omar, Ball, Steve, Munir, Atif, Boelaert, Kristien, Chortis, Vasileios, Cuthbertson, Daniel J, Daousi, Christina, Rajeev, Surya P, Davis, Julian, Cheer, Kelly, Drake, William, Gunganah, Kirun, Grossman, Ashley, Gurnell, Mark, Powlson, Andrew S, Karavitaki, Niki, Huguet, Isabel, Kearney, Tara, Mohit, Kumar, Meeran, Karim, Hill, Neil, Rees, Aled, Lansdown, Andrew J, Trainer, Peter J, Minder, Anna-Elisabeth H, Newell-Price, John
Published in The journal of clinical endocrinology and metabolism (01.11.2015)
Published in The journal of clinical endocrinology and metabolism (01.11.2015)
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First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria
Belosevic, Adrian, Minder, Anna-Elisabeth, Gueuning, Morgan, van Breemen, Franziska, Thun, Gian Andri, Mattle-Greminger, Maja P, Meyer, Stefan, Baumer, Alessandra, Minder, Elisabeth I, Schneider-Yin, Xiaoye, Barman-Aksözen, Jasmin
Published in Life (Basel, Switzerland) (01.09.2023)
Published in Life (Basel, Switzerland) (01.09.2023)
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EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms
Cassiman, David, Kauppinen, Raili, Monroy, Susana, Lee, Ming‐Jen, Bonkovsky, Herbert L., Thapar, Manish, Guillén‐Navarro, Encarna, Minder, Anna‐Elisabeth, Hale, Cecilia, Sweetser, Marianne T., Ivanova, Aneta
Published in Journal of inherited metabolic disease (01.11.2022)
Published in Journal of inherited metabolic disease (01.11.2022)
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Journal Article
An α-Melanocyte–Stimulating Hormone Analogue in Erythropoietic Protoporphyria
Minder, Elisabeth I, Harms, Juergen, Minder, Christoph E, Lautenschlager, Stephan
Published in The New England journal of medicine (15.01.2009)
Published in The New England journal of medicine (15.01.2009)
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Journal Article
Quality-Adjusted Life Years in Erythropoietic Protoporphyria and Other Rare Diseases: A Patient-Initiated EQ-5D Feasibility Study
Barman-Aksözen, Jasmin, Minder, Anna-Elisabeth, Granata, Francesca, Pettersson, Mårten, Dechant, Cornelia, Aksözen, Mehmet Hakan, Falchetto, Rocco
Published in International journal of environmental research and public health (28.03.2023)
Published in International journal of environmental research and public health (28.03.2023)
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Journal Article
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria
Barman-Aksözen, Jasmin, Halloy, Francois, Iyer, Pavithra S., Schümperli, Daniel, Minder, Anna Elisabeth, Hall, Jonathan, Minder, Elisabeth I., Schneider-Yin, Xiaoye
Published in Molecular genetics and metabolism (01.11.2019)
Published in Molecular genetics and metabolism (01.11.2019)
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Journal Article
Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide – a three years observational study
Barman-Aksözen, Jasmin, Nydegger, Michèle, Schneider-Yin, Xiaoye, Minder, Anna-Elisabeth
Published in Orphanet journal of rare diseases (18.08.2020)
Published in Orphanet journal of rare diseases (18.08.2020)
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A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias
Barman-Aksözen, Jasmin, Suter, Lukas, Wegmann, Franziska, Meienberg, Janine, Minder, Anna Elisabeth, Beer, Marc, Komminoth, Paul, Minder, Elisabeth I., Schneider-Yin, Xiaoye
Published in Scandinavian journal of clinical and laboratory investigation (04.07.2019)
Published in Scandinavian journal of clinical and laboratory investigation (04.07.2019)
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Journal Article
In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability
Barman-Aksözen, Jasmin, Minder, Elisabeth I., Schubiger, Carina, Biolcati, Gianfranco, Schneider-Yin, Xiaoye
Published in Blood cells, molecules, & diseases (01.01.2015)
Published in Blood cells, molecules, & diseases (01.01.2015)
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Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study
Minder, Anna-Elisabeth, Barman-Aksoezen, Jasmin, Schmid, Mathias, Minder, Elisabeth I., Zulewski, Henryk, Minder, Christoph E., Schneider-Yin, Xiaoye
Published in Therapeutic advances in rare disease (01.01.2021)
Published in Therapeutic advances in rare disease (01.01.2021)
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Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity
Barman-Aksoezen, Jasmin, Girelli, Domenico, Aurizi, Caterina, Schneider-Yin, Xiaoye, Campostrini, Natascia, Barbieri, Luca, Minder, Elisabeth I., Biolcati, Gianfranco
Published in Journal of inherited metabolic disease (01.05.2017)
Published in Journal of inherited metabolic disease (01.05.2017)
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