New spastic paraplegia phenotype associated to mutation of NFU1

Por Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean François, Ogier, Heléne, Boespflug-Tanguy, Odile
Publicado no Orphanet J Rare Dis (2015)

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Por Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Publicado no Mol Genet Metab Rep (2016)

Angelman syndrome and isovaleric acidemia: What is the link?

Por Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel
Publicado no Mol Genet Metab Rep (2015)

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Por Sabourdy, Frédérique, Mourey, Lionel, Le Trionnaire, Emmanuelle, Bednarek, Nathalie, Caillaud, Catherine, Chaix, Yves, Delrue, Marie-Ange, Dusser, Anne, Froissart, Roseline, Garnotel, Roselyne, Guffon, Nathalie, Megarbane, André, Ogier de Baulny, Hélène, Pédespan, Jean-Michel, Pichard, Samia, Valayannopoulos, Vassili, Verloes, Alain, Levade, Thierry
Publicado no Orphanet J Rare Dis (2015)

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Por Valayannopoulos, Vassili, Baruteau, Julien, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L., Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro, Guffon, Nathalie, Hofstede, Floris C., Kalkan-Ucar, Sema, Coker, Mahmut, Lama-More, Rosa, Martinez-Pardo Casanova, Mercedes, Molina, Agustin, Pichard, Samia, Papadia, Francesco, Rosello, Patricia, Plisson, Celine, Le Mouhaer, Jeannie, Chakrapani, Anupam
Publicado no Orphanet J Rare Dis (2016)

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Por Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Publicado no Am J Hum Genet (2016)