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Molecular Genetics and Metabolism|September 13, 2024
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencingRafael Hencke Tresbach, Fernanda Sperb-Ludwig, Rodrigo Ligabue-Braun, et al.Pediatric Transplantation|October 22, 2025
Double Versus Single Hepatic Artery Anastomosis in Pediatric Left Liver Grafts: A Reassessment of OutcomesCarolina Magalhães Costa, Eduardo Antunes Fonseca, Renata Pereira Sustovich Pugliese, et al.Journal of Neurology|July 10, 2009
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutationsSueli M Oba-Shinjo, Roseli da Silva, Fernanda G Andrade, et al.Arquivos De Gastroenterologia|August 29, 2019
UPDATE OF THE BRAZILIAN SOCIETY OF HEPATOLOGY RECOMMENDATIONS FOR DIAGNOSIS AND MANAGEMENT OF AUTOIMMUNE DISEASES OF THE LIVERCláudia Alves Couto, Debora Raquel Benedita Terrabuio, Eduardo Luiz Rachid Cançado, et al.Arquivos De Gastroenterologia|March 10, 2016
Brazilian society of hepatology recommendations for the diagnosis and management of autoimmune diseases of the liverPaulo Lisboa Bittencourt, Eduardo Luiz Rachid Cançado, Cláudia Alves Couto, et al.Jornal De Pediatria|February 23, 2026
Biliary Atresia: advances and challenges in early diagnosis and managementElisa de Carvalho, Mirta Elba Ciocca, Gilda Porta, et al.American Journal of Medical Genetics. Part A|March 9, 2026
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter StudyMariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, et al.The Lancet. Gastroenterology & Hepatology|May 9, 2024
Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialAlexander G Miethke, Adib Moukarzel, Gilda Porta, et al.Jornal De Pediatria|June 2, 2018
Autoimmune hepatitis in 828 Brazilian children and adolescents: clinical and laboratory findings, histological profile, treatments, and outcomesGilda Porta, Elisa de Carvalho, Jorge L Santos, et al.Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.Pageof 10