Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother

por Dubot, Patricia, Astudillo, Léonardo, Touati, Guy, Baruteau, Julien, Broué, Pierre, Roche, Sandrine, Sabourdy, Frédérique, Levade, Thierry
Publicado 2019

First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation

por Dubot, Patricia, Sabourdy, Frédérique, Plat, Geneviève, Jubert, Charlotte, Cancès, Claude, Broué, Pierre, Touati, Guy, Levade, Thierry
Publicado 2019

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients

por Denamur, Sophie, Touati, Guy, Debelleix, Stéphane, Damaj, Léna, Barth, Magalie, Tardieu, Marine, Gorce, Magali, Broué, Pierre, Lacombe, Didier, Labarthe, François
Publicado 2021

Psychiatric adult-onset of urea cycle disorders: A case-series

por Bigot, Adrien, Brunault, Paul, Lavigne, Christian, Feillet, François, Odent, Sylvie, Kaphan, Elsa, Thauvin, Christel, Leguy, Vanessa, Broué, Pierre, Tchan, Michel C., Maillot, François
Publicado 2017

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

por Freihuber, Cécile, Dahmani-Rabehi, Bahia, Brassier, Anaïs, Broué, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, François, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie T., Héron, Bénédicte
Publicado 2023

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

por Almes, Marion, Spraul, Anne, Ruiz, Mathias, Girard, Muriel, Roquelaure, Bertrand, Laborde, Nolwenn, Gottrand, Fréderic, Turquet, Anne, Lamireau, Thierry, Dabadie, Alain, Bonneton, Marjorie, Thebaut, Alice, Rohmer, Babara, Lacaille, Florence, Broué, Pierre, Fabre, Alexandre, Mention-Mulliez, Karine, Bouligand, Jérôme, Jacquemin, Emmanuel, Gonzales, Emmanuel
Publicado 2022

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

por Jeannesson-Thivisol, Elise, Feillet, François, Chéry, Céline, Perrin, Pascal, Battaglia-Hsu, Shyue-Fang, Herbeth, Bernard, Cano, Aline, Barth, Magalie, Fouilhoux, Alain, Mention, Karine, Labarthe, François, Arnoux, Jean-Baptiste, Maillot, François, Lenaerts, Catherine, Dumesnil, Cécile, Wagner, Kathy, Terral, Daniel, Broué, Pierre, de Parscau, Loïc, Gay, Claire, Kuster, Alice, Bédu, Antoine, Besson, Gérard, Lamireau, Delphine, Odent, Sylvie, Masurel, Alice, Guéant, Jean-Louis, Namour, Fares
Publicado 2015

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study

por Oussalah, Abderrahim, Jeannesson-Thivisol, Elise, Chéry, Céline, Perrin, Pascal, Rouyer, Pierre, Josse, Thomas, Cano, Aline, Barth, Magalie, Fouilhoux, Alain, Mention, Karine, Labarthe, François, Arnoux, Jean-Baptiste, Maillot, François, Lenaerts, Catherine, Dumesnil, Cécile, Wagner, Kathy, Terral, Daniel, Broué, Pierre, De Parscau, Loic, Gay, Claire, Kuster, Alice, Bédu, Antoine, Besson, Gérard, Lamireau, Delphine, Odent, Sylvie, Masurel, Alice, Rodriguez-Guéant, Rosa-Maria, Feillet, François, Guéant, Jean-Louis, Namour, Fares
Publicado 2020