USE OF BUPROPION FOR ATTENTION-DEFICIT/ HYPERACTIVITY
Nádia Barradas1; Ricardo Delgado2; Cristina Marques3
UTILITY OF GENE PANELS FOR THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM IN A METABOLIC REFERENCE CENTER
Sofia Barbosa-Gouveia1 , María E. Vázquez-Mosquera1 , Emiliano González-Vioque2 , José V. Álvarez1 , Roi Chans1 , Francisco Laranjeira3 , Esmeralda Martins4 , Ana Cristina Ferreira5 , Alejandro Avila-Alvarez6 and María L. Couce1
VALUE-BASED DECISION-MAKING FOR ORPHAN DRUGS WITH MULTIPLE CRITERIA DECISION ANALYSIS: BUROSUMAB FOR THE TREATMENT OF X-LINKED HYPOPHOSPHATEMIA
Bjorn Vandewalle, Miguel Amorim, Diogo Ramos, Sofia Azevedo, Inês Alves, Telma Francisco1, Helena Pinto and Sérgio Sousa
VARIANTS IN STXBP3 ARE ASSOCIATED WITH VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE, BILATERAL SENSORINEURAL HEARING LOSS AND IMMUNE DYSREGULATION
Jodie Ouahed1, Judith R. Kelsen2, Waldo A. Spessott3, Kameron Kooshesh4, Maria L. Sanmillan3, Noor Dawany5, Kathleen E. Sullivan6, Kathryn Hamilton7, Voytek Slowik8, Sergey Nejentsev9-10, João Farela Neves11-12, Helena Flores13, Wendy K. Chung14, Ashley Wilson14, Kwame Anyane Yeboa14, Karen Wou14, Preti Jain15, Michael Field1, Sophia Tollefson1, Maiah H. Dent7, Dalin Li16, Takeo Naito16, Dermot P. B. McGovern16, Andrew C. Kwong1-17-18, Faith Taliaferro1-18, Jose Ordovas-Montanes1-18-19-20, Bruce Horwitz1-21, Daniel Kotlarz1-22, Christoph Klein22, Jonathan Evans23, Jill Dorsey23, Neil Warner24, Abdul Elkadri24, Aleixo M. Muise24, Jeffrey Goldsmith25, Benjamin Thompson26, Karin R. Engelhardt26, Andrew J. Cant26-27, Sophie Hambleton26-27, Andrew Barclay28, Agnes Toth-Petroczy4, Dana Vuzman4, Nikkola Carmichael4, Corneliu Bodea4, Christopher A. Cassa4, Marcella Devoto29, Richard L. Maas4, Edward M. Behrens30, Claudio G. Giraudo3, Scott B. Snapper1-31
VENTILATORY DEFECTS AND TREATABLE TRAITS IN VERY ELDERLY PATIENTS
Gaspar-Marques J1,2, Palmeiro T1, Caires I1, Leiria Pinto P1,2, Neuparth N1,2, Carreiro-Martins P.1,2
VIDEO-ASSISTED URETERO-URETEROSTOMY IN CHILDREN – SINGLE CENTER REPORT
Joana Patena Forte 1, Ema Santos 1, Aline Vaz Silva1, Dinorah Cardoso1, Vanda P. Vital1, Fátima Alves1
Vomiting in the Emergency Department, a red flag to metabolic disorders
Margarida Simão; Patrícia Lopes1; Ana Margarida Garcia2; Ana Cristina Ferreira3
WERNICKE ENCEPHALHOPATHY IN CHILDREN
Andreia Forno1, Bruno Cunha2, Catarina Luís3, Ana Castro4, Marta Moniz4, Carlos Escobar4, Sérgio Lamy5, Andreia Pereira6, Ana Martins6, Carla Conceição2
ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME: THE FIRST CASE DUE TO A 21Q22.1 MICRODELETION ENCOMPASSING SON GENE
Mafalda Melo1, Susana Ferreira1, Diana Antunes1, Rui Gonçalves1, Teresa Kay1
“AS APARÊNCIAS NÃO ILUDEM” – A PROPÓSITO DE 2 CASOS DE (SUPOSTA) PERTURBAÇÃO DO COMPORTAMENTO ALIMENTAR (PCA)
Ana Lança1; Joana Vasconcelos1; Rui Carvalho2; Rita Coelho1; Catarina Borges1; Sofia Bota3; Isabel Afonso3; Leonor Sassetti1