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Molecular Genetics and Metabolism|September 7, 2020
Kidney transplantation improves the clinical outcomes of Acute Intermittent PorphyriaHelene Lazareth, Neila Talbi, Nassim Kamar, et al.European Radiology|October 25, 2021
Autofluorescence imaging within the liver: a promising tool for the detection and characterization of primary liver tumorsCharlotte Benoit, Aurélie Rodrigues, Julien Calderaro, et al.Haematologica|February 2, 2017
Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease modelSarah Millot, Constance Delaby, Boualem Moulouel, et al.Gastroenterology|July 19, 2011
Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse modelSaïd Lyoumi, Marie Abitbol, Dominique Rainteau, et al.Human Molecular Genetics|December 25, 2012
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)Sarah Ducamp, Xiaoye Schneider-Yin, Felix de Rooij, 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.Human Molecular Genetics|January 24, 2018
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyriaHugo Lenglet, Caroline Schmitt, Thomas Grange, et al.Journal of the American Society of Nephrology : JASN|August 22, 2015
Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coliDounia Houamel, Nicolas Ducrot, 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.Journal of Medical Genetics|September 2, 2016
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndromePauline Arnaud, Nadine Hanna, Mélodie Aubart, et al.Pageof 12