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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.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.Genes|May 24, 2020
Quantifying the Genetic Basis of Marfan Syndrome Clinical VariabilityThomas Grange, Mélodie Aubart, Maud Langeois, et al.Molecular Genetics and Metabolism Reports|March 4, 2021
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomyJean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, et al.Biochemistry|August 25, 2015
Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product ReleaseErica J Fratz, Jerome Clayton, Gregory A Hunter, et al.Expert Review of Gastroenterology & Hepatology|August 5, 2022
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiranPaolo Ventura, Eliane Sardh, Nicola Longo, et al.Journal of Medical Genetics|March 8, 2024
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndromePauline Arnaud, Zakaria Mougin, Genevieve Baujat, et al.Gastroenterology|January 30, 2007
Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier geneLaurent Gouya, Francoise Muzeau, Anne-Marie Robreau, et al.Blood Advances|November 1, 2021
ABCB6 polymorphisms are not overly represented in patients with porphyriaColin P Farrell, Gäel Nicolas, Robert J Desnick, et al.Pageof 12