Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study

por Paermentier, Laetitia, Cano, Aline, Chabrol, Brigitte, Roy, Arnaud
Publicado 2023

Brevibacterium massiliense bacteremia

por Vecten, Maude, Gouriet, Frédérique, Cano, Aline, Raoult, Didier
Publicado 2016

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants

por Jaouadi, Hager, El Louali, Fedoua, Wanert, Chloé, Cano, Aline, Ovaert, Caroline, Zaffran, Stéphane
Publicado 2022

Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study

por Fabre, Alexandre, Baumstarck, Karine, Cano, Aline, Loundou, Anderson, Berbis, Julie, Chabrol, Brigitte, Auquier, Pascal
Publicado 2013

COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy

por Justine Perrin, R., Rousset‐Rouvière, Caroline, Garaix, Florentine, Cano, Aline, Conrath, John, Boyer, Olivia, Tsimaratos, Michel
Publicado 2020

French recommendations for the management of glycogen storage disease type III

por Wicker, Camille, Cano, Aline, Decostre, Valérie, Froissart, Roseline, Maillot, François, Perry, Ariane, Petit, François, Voillot, Catherine, Wahbi, Karim, Wenz, Joëlle, Laforêt, Pascal, Labrune, Philippe
Publicado 2023

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 2016

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

por Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin
Publicado 2022

Betaine anhydrous in homocystinuria: results from the RoCH registry

por Valayannopoulos, Vassili, Schiff, Manuel, Guffon, Nathalie, Nadjar, Yann, García-Cazorla, Angels, Martinez-Pardo Casanova, Mercedes, Cano, Aline, Couce, Maria L., Dalmau, Jaime, Peña-Quintana, Luis, Rigalleau, Vincent, Touati, Guy, Aldamiz-Echevarria, Luis, Cathebras, Pascal, Eyer, Didier, Brunet, Dominique, Damaj, Léna, Dobbelaere, Dries, Gay, Claire, Hiéronimus, Sylvie, Levrat, Virginie, Maillot, François
Publicado 2019

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 2016

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

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

por Gardin, Antoine, Castelle, Martin, Pichard, Samia, Cano, Aline, Chabrol, Brigitte, Piarroux, Julie, Roubertie, Agathe, Nadjar, Yann, Guemann, Anne-Sophie, Tardieu, Marine, Lacombe, Didier, Robert, Matthieu P., Caillaud, Catherine, Froissart, Roseline, Leboeuf, Virginie, Barbier, Valérie, Bouchereau, Juliette, Schiff, Manuel, Fauroux, Brigitte, Thierry, Briac, Luscan, Romain, James, Syril, de Saint-Denis, Timothée, Pannier, Stéphanie, Gitiaux, Cyril, Vergnaud, Estelle, Boddaert, Nathalie, Lascourreges, Claire, Lemoine, Michel, Bonnet, Damien, Blanche, Stéphane, Dalle, Jean-Hugues, Neven, Bénédicte, de Lonlay, Pascale, Brassier, Anaïs
Publicado 2022

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

por Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M., Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O’Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M., Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul
Publicado 2022