Search Results - Mathias Ruiz

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  1. 1

    Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests by Olivier Guillaud, Jérôme Dumortier, Eduardo Couchonnal-Bedoya, Mathias Ruiz

    Published in Diagnostics (2023-01-01)
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  2. 2

    ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency. by Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh

    Published in PLoS ONE (2017-01-01)
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  3. 3

    Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis by Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Fréderic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broué, Alexandre Fabre, Karine Mention-Mulliez, Jérôme Bouligand, Emmanuel Jacquemin, Emmanuel Gonzales

    Published in Diagnostics (2022-05-01)
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  4. 4

    HOPE Mitigates Ischemia-Reperfusion Injury in Ex-Situ Split Grafts: A Comparative Study With Living Donation in Pediatric Liver Transplantation by Guillaume Rossignol, Guillaume Rossignol, Guillaume Rossignol, Guillaume Rossignol, Xavier Muller, Xavier Muller, Xavier Muller, Mathias Ruiz, Sophie Collardeau-Frachon, Natacha Boulanger, Celia Depaulis, Teresa Antonini, Remi Dubois, Kayvan Mohkam, Kayvan Mohkam, Kayvan Mohkam, Jean-Yves Mabrut, Jean-Yves Mabrut, Jean-Yves Mabrut

    Published in Transplant International (2024-06-01)
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  5. 5

    ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid by Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fischler, Emmanuel Gonzales, Anne Davit-Spraul, Sophie Laplanche, Emmanuel Jacquemin

    Published in Orphanet Journal of Rare Diseases (2023-12-01)
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