A rare late progression form of Sly syndrome mucopolysaccharidosis

द्वारा Guffon, Nathalie, Froissart, Roseline, Fouilhoux, Alain
में प्रकाशित JIMD Rep (2019)

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

द्वारा Levrat, Virginie, Forest, Isabelle, Fouilhoux, Alain, Acquaviva, Cécile, Vianey-Saban, Christine, Guffon, Nathalie
प्रकाशित 2008

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

द्वारा Germain, Dominique P., Fouilhoux, Alain, Decramer, Stéphane, Tardieu, Marine, Pillet, Pascal, Fila, Marc, Rivera, Serge, Deschênes, Georges, Lacombe, Didier
में प्रकाशित Clin Genet (2019)

Intrafamilial Variability in LPIN1-Related Rhabdomyolysis

द्वारा Pons, Linda, Acquaviva-Bourdain, Cécile, Teyssedre, Sonia, Didier, Capucine, Veauville, Alice, Steffann, Julie, Gobin, Stéphanie, de Lonlay, Pascale, Guffon, Nathalie, Fouilhoux, Alain
में प्रकाशित 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

द्वारा 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
में प्रकाशित PLoS One (2017)

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

द्वारा 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
में प्रकाशित Orphanet J Rare Dis (2016)

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

द्वारा 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
में प्रकाशित Orphanet J Rare Dis (2019)

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

द्वारा 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
में प्रकाशित 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

द्वारा 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
में प्रकाशित EBioMedicine (2020)