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Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 9, p. 898, doi. 10.3390/jpm11090898
By:
- Ducatez, Franklin;
- Mauhin, Wladimir;
- Boullier, Agnès;
- Pilon, Carine;
- Pereira, Tony;
- Aubert, Raphaël;
- Benveniste, Olivier;
- Marret, Stéphane;
- Lidove, Olivier;
- Bekri, Soumeya;
- Tebani, Abdellah
Publication type:
Article
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Published in:
2017
By:
- Mauhin, Wladimir;
- Habarou, Florence;
- Gobin, Stéphanie;
- Servais, Aude;
- Brassier, Anaïs;
- Grisel, Coraline;
- Roda, Célina;
- Pinto, Graziella;
- Moshous, Despina;
- Ghalim, Fahd;
- Krug, Pauline;
- Deltour, Nelly;
- Pontoizeau, Clément;
- Dubois, Sandrine;
- Assoun, Murielle;
- Galmiche, Louise;
- Bonnefont, Jean-Paul;
- Ottolenghi, Chris;
- de Blic, Jacques;
- Arnoux, Jean-Baptiste
Publication type:
journal article
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1325, doi. 10.3390/jcm9051325
By:
- Tebani, Abdellah;
- Mauhin, Wladimir;
- Abily-Donval, Lenaig;
- Lesueur, Céline;
- Berger, Marc G.;
- Nadjar, Yann;
- Berger, Juliette;
- Benveniste, Oliver;
- Lamari, Foudil;
- Laforêt, Pascal;
- Noel, Esther;
- Marret, Stéphane;
- Lidove, Olivier;
- Bekri, Soumeya
Publication type:
Article
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Published in:
Scientific Reports, 2016, p. 36182, doi. 10.1038/srep36182
By:
- Masat, Elisa;
- Laforêt, Pascal;
- De Antonio, Marie;
- Corre, Guillaume;
- Perniconi, Barbara;
- Taouagh, Nadjib;
- Mariampillai, Kuberaka;
- Amelin, Damien;
- Mauhin, Wladimir;
- Hogrel, Jean-Yves;
- Caillaud, Catherine;
- Ronzitti, Giuseppe;
- Puzzo, Francesco;
- Kuranda, Klaudia;
- Colella, Pasqualina;
- Mallone, Roberto;
- Benveniste, Olivier;
- Mingozzi, Federico
Publication type:
Article
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease.
Published in:
2019
By:
- Mauhin, Wladimir;
- Lidove, Olivier;
- Benveniste, Olivier
Publication type:
Letter
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Published in:
2018
By:
- Mauhin, Wladimir;
- Lidove, Olivier;
- Amelin, Damien;
- Lamari, Foudil;
- Caillaud, Catherine;
- Mingozzi, Federico;
- Dzangué-Tchoupou, Gaëlle;
- Arouche-Delaperche, Louiza;
- Douillard, Claire;
- Dussol, Bertrand;
- Leguy-Seguin, Vanessa;
- D'Halluin, Pauline;
- Noel, Esther;
- Zenone, Thierry;
- Matignon, Marie;
- Maillot, François;
- Ly, Kim-Heang;
- Besson, Gérard;
- Willems, Marjolaine;
- Labombarda, Fabien
Publication type:
journal article
Cochleovestibular involvement in patients with Fabry disease: data from the multicenter cohort FFABRY.
Published in:
European Archives of Oto-Rhino-Laryngology, 2022, v. 279, n. 3, p. 1639, doi. 10.1007/s00405-021-07173-x
By:
- Asquier-Khati, Antoine;
- Mauhin, Wladimir;
- Michel, Guillaume;
- Gendre, Adrien;
- Durant, Cécile;
- Lavigne, Christian;
- Maillard, Hélène;
- Lacombe, Didier;
- Willems, Marjolaine;
- Lidove, Olivier;
- Masseau, Agathe
Publication type:
Article
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 5, p. 1233, doi. 10.3390/jcm11051233
By:
- Mauhin, Wladimir;
- Tebani, Abdellah;
- Amelin, Damien;
- Abily-Donval, Lenaig;
- Lamari, Foudil;
- London, Jonathan;
- Douillard, Claire;
- Dussol, Bertrand;
- Leguy-Seguin, Vanessa;
- Noel, Esther;
- Masseau, Agathe;
- Lacombe, Didier;
- Maillard, Hélène;
- Bekri, Soumeya;
- Lidove, Olivier;
- Benveniste, Olivier
Publication type:
Article
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11040920
By:
- Mauhin, Wladimir;
- Borie, Raphaël;
- Dalbies, Florence;
- Douillard, Claire;
- Guffon, Nathalie;
- Lavigne, Christian;
- Lidove, Olivier;
- Brassier, Anaïs
Publication type:
Article
Prevalence of Cancer in Acid Sphingomyelinase Deficiency.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 5029, doi. 10.3390/jcm10215029
By:
- Mauhin, Wladimir;
- Levade, Thierry;
- Vanier, Marie T.;
- Froissart, Roseline;
- Lidove, Olivier
Publication type:
Article
Acid sphingomyelinase deficiency in France: a retrospective survival study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03234-6
By:
- Mauhin, Wladimir;
- Guffon, Nathalie;
- Vanier, Marie T.;
- Froissart, Roseline;
- Cano, Aline;
- Douillard, Claire;
- Lavigne, Christian;
- Héron, Bénédicte;
- Belmatoug, Nadia;
- Uzunhan, Yurdagül;
- Lacombe, Didier;
- Levade, Thierry;
- Duvivier, Aymeric;
- Pulikottil-Jacob, Ruth;
- Laredo, Fernando;
- Pichard, Samia;
- Lidove, Olivier;
- Abi-Wardé, Marie-Thérèse;
- Berger, Marc;
- Berthoux, Emilie
Publication type:
Article
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Published in:
PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0233460
By:
- Mauhin, Wladimir;
- Benveniste, Olivier;
- Amelin, Damien;
- Montagner, Clémence;
- Lamari, Foudil;
- Caillaud, Catherine;
- Douillard, Claire;
- Dussol, Bertrand;
- Leguy-Seguin, Vanessa;
- D'Halluin, Pauline;
- Noel, Esther;
- Zenone, Thierry;
- Matignon, Marie;
- Maillot, François;
- Ly, Kim-Heang;
- Besson, Gérard;
- Willems, Marjolaine;
- Labombarda, Fabien;
- Masseau, Agathe;
- Lavigne, Christian
Publication type:
Article
Aseptic meningitis and Fabry disease.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1430, doi. 10.1002/acn3.52043
By:
- Montardi, Camille;
- Gaudemer, Augustin;
- Zuber, Mathieu;
- Vuillemet, Francis;
- Alexandra, Jean‐François;
- Lidove, Olivier;
- Mauhin, Wladimir
Publication type:
Article
Pathogenic role of anti-signal recognition protein and anti-3-Hydroxy-3-methylglutaryl-CoA reductase antibodies in necrotizing myopathies: Myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies.
Published in:
2017
By:
- Arouche‐Delaperche, Louiza;
- Allenbach, Yves;
- Amelin, Damien;
- Preusse, Corinna;
- Mouly, Vincent;
- Mauhin, Wladimir;
- Tchoupou, Gaelle Dzangue;
- Drouot, Laurent;
- Boyer, Olivier;
- Stenzel, Werner;
- Butler‐Browne, Gillian;
- Benveniste, Olivier
Publication type:
journal article
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3‐related CD27 expression in CD4 T cells in Fabry disease.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 818, doi. 10.1002/jimd.12727
By:
- Mauhin, Wladimir;
- Dzangue‐Tchoupou, Gaelle;
- Amelin, Damien;
- Corneau, Aurélien;
- Lamari, Foudil;
- Allenbach, Yves;
- Dussol, Bertrand;
- Leguy‐Seguin, Vanessa;
- D'Halluin, Pauline;
- Matignon, Marie;
- Maillot, François;
- Ly, Kim‐Heang;
- Besson, Gérard;
- Willems, Marjolaine;
- Labombarda, Fabien;
- Masseau, Agathe;
- Lavigne, Christian;
- Lacombe, Didier;
- Maillard, Hélène;
- Lidove, Olivier
Publication type:
Article
Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.894
By:
- Lamari, Foudil;
- Mauhin, Wladimir;
- Koraichi, Fairouz;
- Khrouf, Walid;
- Bordet, Celine;
- London, Jonathan;
- Lidove, Olivier;
- Charron, Philippe
Publication type:
Article
Coagulation disorders during treatment with cefazolin and rifampicin: rare but dangerous.
Published in:
Journal of Bone & Joint Infection (JBJI), 2020, v. 6, n. 5, p. 131, doi. 10.5194/jbji-6-131-2021
By:
- Kouki, Ines;
- Montagner, Clémence;
- Mauhin, Wladimir;
- London, Jonathan;
- Lazard, Thierry;
- Grimbert, Sylvie;
- Zeller, Valérie;
- Lidove, Olivier
Publication type:
Article

Found: 17