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Skin Health and Disease|April 5, 2024
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case reportPierre Peterlin, Julia Bonnelye, Alice Garnier, et al.Life (Basel, Switzerland)|January 23, 2024
Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and PerspectivesClaire Goudet, Cécile Ged, Audrey Petit, et al.Journal of Inherited Metabolic Disease|October 26, 2024
Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patientsThibaud Lefebvre, Thibaut Eguether, Etienne Thévenot, et al.Molecular Genetics and Metabolism Reports|December 6, 2023
Management of erythropoietic protoporphyria with cholestatic liver disease: A case reportAntoine Poli, Camilla Frieri, Thibaud Lefebvre, et al.American Journal of Human Genetics|February 5, 2019
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic ProtoporphyriaArienne Mirmiran, Caroline Schmitt, Thibaud Lefebvre, et al.Molecular Genetics and Metabolism|January 21, 2022
Givosiran in acute intermittent porphyria: A personalized medicine approachAntoine Poli, Caroline Schmitt, Boualem Moulouel, et al.Pageof 2