Porphyria and kidney diseases

por Pallet, Nicolas, Karras, Alexandre, Thervet, Eric, Gouya, Laurent, Karim, Zoubida, Puy, Hervé
Publicado 2018

Stability of serum ferritin measured by immunoturbidimetric assay after storage at -80°C for several years

por Sacri, Anne-Sylvia, Ferreira, Daniela, Khoshnood, Babak, Gouya, Laurent, Barros, Henrique, Chalumeau, Martin
Publicado 2017

Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay

por Poli, Antoine, Schmitt, Caroline, Moulouel, Boualem, Mirmiran, Arienne, Puy, Hervé, Lefèbvre, Thibaud, Gouya, Laurent
Publicado 2021

Management of suspected monogenic lung fibrosis in a specialised centre

por Borie, Raphael, Kannengiesser, Caroline, Sicre de Fontbrune, Flore, Gouya, Laurent, Nathan, Nadia, Crestani, Bruno
Publicado 2017

Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm

por Luck, Margaux, Schmitt, Caroline, Talbi, Neila, Gouya, Laurent, Caradeuc, Cédric, Puy, Hervé, Bertho, Gildas, Pallet, Nicolas
Publicado 2018

Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm

por Luck, Margaux, Schmitt, Caroline, Talbi, Neila, Gouya, Laurent, Caradeuc, Cédric, Puy, Hervé, Bertho, Gildas, Pallet, Nicolas
Publicado 2017

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

por Arnaud, Pauline, Morel, Hélène, Milleron, Olivier, Gouya, Laurent, Francannet, Christine, Da Costa, Antoine, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Hanna, Nadine
Publicado 2021

Renal Function Decline With Small Interfering RNA Silencing Aminolevulinic Acid Synthase 1 (ALAS1)

por Lazareth, Hélène, Poli, Antoine, Bignon, Yohan, Mirmiran, Arienne, Rabant, Marion, Cohen, Raphaël, Schmitt, Caroline, Puy, Hervé, Karras, Alexandre, Gouya, Laurent, Pallet, Nicolas
Publicado 2021

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

por Grange, Thomas, Aubart, Mélodie, Langeois, Maud, Benarroch, Louise, Arnaud, Pauline, Milleron, Olivier, Eliahou, Ludivine, Gross, Marie-Sylvie, Hanna, Nadine, Boileau, Catherine, Gouya, Laurent, Jondeau, Guillaume
Publicado 2020

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

por Blouin, Jean-Marc, Ged, Cécile, Bernardo-Seisdedos, Ganeko, Cabantous, Txomin, Pinson, Benoît, Poli, Antoine, Puy, Hervé, Millet, Oscar, Gouya, Laurent, Morice-Picard, Fanny, Richard, Emmanuel
Publicado 2021

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

por Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortès, Xènia, Nicolas, Gaël, Manceau, Hana, Peoc’h, Katell, Yien, Yvette Y., Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka
Publicado 2021

ABCB6 polymorphisms are not overly represented in patients with porphyria

por Farrell, Colin P., Nicolas, Gäel, Desnick, Robert J., Parker, Charles J., Lamoril, Jerome, Gouya, Laurent, Karim, Zoubida, Tchernitchko, Dimitri, Chan, Brenden, Puy, Herve, Phillips, John D.
Publicado 2022

Erythrocyte Efferocytosis by the Arterial Wall Promotes Oxidation in Early-Stage Atheroma in Humans

por Delbosc, Sandrine, Bayles, Richard Graham, Laschet, Jamila, Ollivier, Veronique, Ho-Tin-Noé, Benoit, Touat, Ziad, Deschildre, Catherine, Morvan, Marion, Louedec, Liliane, Gouya, Laurent, Guedj, Kevin, Nicoletti, Antonino, Michel, Jean-Baptiste
Publicado 2017

Management of erythropoietic protoporphyria with cholestatic liver disease: A case report

por Poli, Antoine, Frieri, Camilla, Lefebvre, Thibaud, Delforge, Juliette, Mirmiran, Arienne, Talbi, Neila, Moulouel, Boualem, Six, Marion, Paradis, Valérie, Parquet, Nathalie, Puy, Hervé, Schmitt, Caroline, Aslangul, Elisabeth, de Fontbrune, Flore Sicre, Gouya, Laurent
Publicado 2023

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

por Arnaud, Pauline, Milleron, Olivier, Hanna, Nadine, Ropers, Jacques, Ould Ouali, Nadia, Affoune, Amel, Langeois, Maud, Eliahou, Ludivine, Arnoult, Florence, Renard, Philippe, Michelon-Jouneaux, Marlène, Cotillon, Marie, Gouya, Laurent, Boileau, Catherine, Jondeau, Guillaume
Publicado 2021

The Genetic Architecture of Chronic Mountain Sickness in Peru

por Gazal, Steven, Espinoza, Jose R., Austerlitz, Frédéric, Marchant, Dominique, Macarlupu, Jose Luis, Rodriguez, Jorge, Ju-Preciado, Hugo, Rivera-Chira, Maria, Hermine, Olivier, Leon-Velarde, Fabiola, Villafuerte, Francisco C., Richalet, Jean-Paul, Gouya, Laurent
Publicado 2019

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria

por Mirmiran, Arienne, Poli, Antoine, Ged, Cecile, Schmitt, Caroline, Lefebvre, Thibaud, Manceau, Hana, Daher, Raêd, Moulouel, Boualem, Peoc'h, Katell, Simonin, Sylvie, Blouin, Jean-Marc, Deybach, Jean-Charles, Nicolas, Gaël, Puy, Hervé, Richard, Emmanuel, Gouya, Laurent
Publicado 2020

Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study

por Ventura, Paolo, Bonkovsky, Herbert L., Gouya, Laurent, Aguilera‐Peiró, Paula, Montgomery Bissell, D., Stein, Penelope E., Balwani, Manisha, Anderson, D. Karl E., Parker, Charles, Kuter, David J., Monroy, Susana, Oh, Jeeyoung, Ritchie, Bruce, Ko, John J., Hua, Zhaowei, Sweetser, Marianne T., Sardh, Eliane
Publicado 2021

Liver Transplantation for Acute Intermittent Porphyria

por Lissing, Mattias, Nowak, Greg, Adam, René, Karam, Vincent, Boyd, Alexander, Gouya, Laurent, Meersseman, Wouter, Melum, Espen, Ołdakowska‐Jedynak, Urszula, Reiter, Florian P., Colmenero, Jordi, Sanchez, Rosario, Herden, Uta, Langendonk, Janneke, Ventura, Paolo, Isoniemi, Helena, Boillot, Olivier, Braun, Felix, Perrodin, Stéphanie, Mowlem, Elizabeth, Wahlin, Staffan
Publicado 2021

mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks

por Jericó, Daniel, Córdoba, Karol M., Jiang, Lei, Schmitt, Caroline, Morán, María, Sampedro, Ana, Alegre, Manuel, Collantes, María, Santamaría, Eva, Alegre, Estíbaliz, Culerier, Corinne, de Mendoza, Ander Estella-Hermoso, Oyarzabal, Julen, Martín, Miguel A., Peñuelas, Iván, Ávila, Matías A., Gouya, Laurent, Martini, Paolo G.V., Fontanellas, Antonio
Publicado 2021