Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications

Por Tezcan, Kamer, Louie, Kristal T., Qu, Yong, Velasquez, Jorge, Zaldivar, Frank, Rioseco-Camacho, Natalia, Camacho, José Angel
Publicado em 2011

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Por Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane
Publicado no Hum Mutat (2016)