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Human Heredity|February 5, 2003
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patientsXiaoye Schneider-Yin, Martin Hergersberg, David E Goldgar, et al.
Molecular Genetics and Metabolism|January 21, 2019
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemiaRaêd Daher, Abdellah Mansouri, Alain Martelli, et al.
Kidney International Reports|July 26, 2021
Renal Function Decline With Small Interfering RNA Silencing Aminolevulinic Acid Synthase 1 (ALAS1)Hélène Lazareth, Antoine Poli, Yohan Bignon, et al.
Pediatric Research|May 26, 2018
Characterization and origin of heme precursors in amniotic fluid: lessons from normal and pathological pregnanciesHana Manceau, Vincent Puy, Caroline M Schmitt, et al.
Analytical Chemistry|January 21, 2014
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopyMickael Carichon, Nicolas Pallet, Caroline Schmitt, et al.
Journal of Internal Medicine|April 25, 2022
Iron deficiency screening is a key issue in chronic inflammatory diseases: A call to actionPatrice Cacoub, Gabriel Choukroun, Alain Cohen-Solal, et al.
Nutrients|March 10, 2022
Towards a Common Definition for the Diagnosis of Iron Deficiency in Chronic Inflammatory DiseasesPatrice Cacoub, Gabriel Choukroun, Alain Cohen-Solal, et al.
Clinical Chemistry and Laboratory Medicine|March 18, 2015
LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disordersThibaud Lefebvre, Nathalie Dessendier, Dounia Houamel, et al.
Clinical Chemistry|August 23, 2023
Quantification of Urine and Plasma Porphyrin Precursors Using LC-MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure PatientsAntoine Poli, Hana Manceau, Anvi Laetitia Nguyen, et al.
Cell Metabolism|February 5, 2015
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiencyAlain Martelli, Stéphane Schmucker, Laurence Reutenauer, et al.
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