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Molecular Genetics and Metabolism Reports|April 11, 2024
Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature reviewIsabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, et al.
Molecular Genetics and Metabolism|August 10, 2019
Results of a pilot study of isoniazid in patients with erythropoietic protoporphyriaCharles J Parker, Robert J Desnick, Montgomery D Bissel, et al.
Blood|September 28, 2006
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient miceSaïd Lyoumi, Marie Abitbol, Valérie Andrieu, et al.
Biology of the Cell|January 29, 2020
TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia cellsHana Manceau, Sophie D Lefevre, Arienne Mirmiran, et al.
Journal of the American Society of Nephrology : JASN|December 30, 2016
A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney DiseaseDimitri Tchernitchko, Quentin Tavernier, Jérôme Lamoril, et al.
Kidney International|April 2, 2015
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyriaNicolas Pallet, Iadh Mami, Caroline Schmitt, et al.
The International Journal of Biochemistry & Cell Biology|April 15, 2014
Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse modelChadi Homedan, Jihane Laafi, Caroline Schmitt, et al.
British Journal of Haematology|March 23, 2021
Deficient mitophagy pathways in sickle cell diseaseSuella Martino, Jean-Benoit Arlet, Marie-Hélène Odièvre, et al.
American Journal of Human Genetics|December 31, 2005
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyriaLaurent Gouya, Caroline Martin-Schmitt, Anne-Marie Robreau, et al.
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.
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