A rare late progression form of Sly syndrome mucopolysaccharidosis

Por Guffon, Nathalie, Froissart, Roseline, Fouilhoux, Alain
Publicado no JIMD Rep (2019)

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Por Levrat, Virginie, Forest, Isabelle, Fouilhoux, Alain, Acquaviva, Cécile, Vianey-Saban, Christine, Guffon, Nathalie
Publicado em 2008

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Por Germain, Dominique P., Fouilhoux, Alain, Decramer, Stéphane, Tardieu, Marine, Pillet, Pascal, Fila, Marc, Rivera, Serge, Deschênes, Georges, Lacombe, Didier
Publicado no Clin Genet (2019)

Intrafamilial Variability in LPIN1-Related Rhabdomyolysis

Por Pons, Linda, Acquaviva-Bourdain, Cécile, Teyssedre, Sonia, Didier, Capucine, Veauville, Alice, Steffann, Julie, Gobin, Stéphanie, de Lonlay, Pascale, Guffon, Nathalie, Fouilhoux, Alain
Publicado no Mol Syndromol (2020)

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

Por Pettazzoni, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T., Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P., Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David
Publicado no PLoS One (2017)

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

Por Husson, Marie-Caroline, Schiff, Manuel, Fouilhoux, Alain, Cano, Aline, Dobbelaere, Dries, Brassier, Anais, Mention, Karine, Arnoux, Jean-Baptiste, Feillet, François, Chabrol, Brigitte, Guffon, Nathalie, Elie, Caroline, de Lonlay, Pascale
Publicado no Orphanet J Rare Dis (2016)

Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire

Por Noël, Esther, Dussol, Bertrand, Lacombe, Didier, Bedreddine, Najya, Fouilhoux, Alain, Ronco, Pierre, Genevaz, Delphine, Bekri, Soumeya, Hagège, Albert, Dupuis-Siméon, Frédérique, Derrien Ansquer, Valérie, Germain, Dominique P., Lidove, Olivier
Publicado no Orphanet J Rare Dis (2019)

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 no Orphanet J Rare Dis (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 no EBioMedicine (2020)