A Cause of Permanent Ketosis: GLUT-1 Deficiency

Por Chenouard, Alexis, Vuillaumier-Barrot, Sandrine, Seta, Nathalie, Kuster, Alice
Publicado no JIMD Rep (2014)

(1)H-NMR-Based Metabolic Profiling of Maternal and Umbilical Cord Blood Indicates Altered Materno-Foetal Nutrient Exchange in Preterm Infants

Por Tea, Illa, Le Gall, Gwénaëlle, Küster, Alice, Guignard, Nadia, Alexandre–Gouabau, Marie-Cécile, Darmaun, Dominique, Robins, Richard J.
Publicado em 2012

Cord Blood Glutathione Depletion in Preterm Infants: Correlation with Maternal Cysteine Depletion

Por Küster, Alice, Tea, Illa, Ferchaud-Roucher, Véronique, Le Borgne, Sabrina, Plouzennec, Claire, Winer, Norbert, Rozé, Jean-Christophe, Robins, Richard J., Darmaun, Dominique
Publicado em 2011

Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood

Por Roubergue, Anne, Philibert, Bertrand, Gautier, Agnès, Kuster, Alice, Markowicz, Karine, Billette de Villemeur, Thierry, Vuillaumier-Barrot, Sandrine, Nicole, Sophie, Roze, Emmanuel, Doummar, Diane
Publicado no JIMD Rep (2014)

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)

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

Por Neilson, Derek E., Adams, Mark D., Orr, Caitlin M.D., Schelling, Deborah K., Eiben, Robert M., Kerr, Douglas S., Anderson, Jane, Bassuk, Alexander G., Bye, Ann M., Childs, Anne-Marie, Clarke, Antonia, Crow, Yanick J., Di Rocco, Maja, Dohna-Schwake, Christian, Dueckers, Gregor, Fasano, Alfonso E., Gika, Artemis D., Gionnis, Dimitris, Gorman, Mark P., Grattan-Smith, Padraic J., Hackenberg, Annette, Kuster, Alice, Lentschig, Markus G., Lopez-Laso, Eduardo, Marco, Elysa J., Mastroyianni, Sotiria, Perrier, Julie, Schmitt-Mechelke, Thomas, Servidei, Serenella, Skardoutsou, Angeliki, Uldall, Peter, van der Knaap, Marjo S., Goglin, Karrie C., Tefft, David L., Aubin, Cristin, de Jager, Philip, Hafler, David, Warman, Matthew L.
Publicado em 2009