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TÍTULO: Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
AUTORES: Posset, R; Garbade, SF; Gleich, F; Gropman, AL; de Lonlay, P; Hoffmann, GF; Garcia Cazorla, A; Nagamani, SCS; Baumgartner, MR; Schulze, A; Dobbelaere, D; Yudkoff, M; Kölker, S; Zielonka, M; Ah Mew, N; Berry, SA; McCandless, SE; Coughlin, C; Enns, G; Gallagher, RC; Burrage, LC; Seminara, J; Harding, CO; Burgard, P; Le Mons, C; Merritt, JL; Stricker, T; Bedoyan, JK; Berry, GT; Diaz, GA; Wong, D; Tuchman, M; Waisbren, S; Weisfeld Adams, JD; Burlina, AB; Leão Teles, E; Pedrón Giner, C; Lund, AM; Dionisi Vici, C; Williams, M; Mütze, U; Karall, D; Blasco Alonso, J; Couce, ML; Sykut Cegielska, J; Augoustides Savvopoulou, P; Ruiz Gomez, A; Barić, I; Schiff, M; Chien, YH; Lindner, M; Chabrol, B; Skouma, A; Zeman, J; Sokal, E; Santer, R; Eyskens, F; Freisinger, P; Peña Quintana, L; Roland, D; Cortès Saladelafont, E; Djordjevic, M; ...Mais
PUBLICAÇÃO: 2020, FONTE: Scientific Reports, VOLUME: 10, NÚMERO: 1
INDEXADO EM: Scopus
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TÍTULO: Rare SUZ12 variants commonly cause an overgrowth phenotype  Full Text
AUTORES: Sharri S Cyrus; Ana S A Cohen; Ruky Agbahovbe; Kristiina Avela; Kit S Yeung; Brian H Y Chung; Ho Ming Luk; Nataliya Tkachenko; Sanaa Choufani; Rosanna Weksberg; Elena Lopez Rangel; Kathleen Brown; Margarita S Saenz; Shayna Svihovec; Shawn E McCandless; Lynne M Bird; Aixa G Garcia; Michael J Gambello; Kirsty McWalter; Rhonda E Schnur; Jianghong H An; Steven J M Jones; Sanjiv K Bhalla; Hailey Pinz; Stephen R Braddock; William T Gibson; ...Mais
PUBLICAÇÃO: 2019, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
INDEXADO EM: Scopus WOS