Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

Autor: Tresbach RH; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Sperb-Ludwig F; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: fsperb@hcpa.edu.br., Ligabue-Braun R; Graduate Program in Biological Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil; Department of Pharmacosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Bitencourt FH; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Tonon T; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Souza CFM; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Poswar FO; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Leite MEQ; Newborn Screening Reference Center - Association of Parents and Friends of People with Disabilities (APAE), Salvador, BA, Brazil., Amorim T; Newborn Screening Reference Center - Association of Parents and Friends of People with Disabilities (APAE), Salvador, BA, Brazil., Porta G; Pedro de Alcântara Children's Institute - Hospital das Clínicas, Medical School, Universidade de São Paulo (USP), São Paulo, SP, Brazil., Seda Neto J; Department of Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, SP, Brazil., Miura IK; Department of Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, SP, Brazil., Steiner CE; Department of Translational Medicine, School of Medical Sciences, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil., Martins AM; Reference Center for Inborn Errors of Metabolism, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil; Department of Pediatrics, Universidade Estadual do Ceará (UECE), Fortaleza, CE, Brazil., Ribeiro EM; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil., Schwartz IVD; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; InRaras, National Institute of Rare Diseases, Brazil.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108569. Date of Electronic Publication: 2024 Aug 29.

Milk protein-based formulas containing different oils affect fatty acids balance in term infants: A randomized blinded crossover clinical trial.

Autor: Souza CO; Postgraduate Programme in Medicine and Health, Federal University of Bahia, Augusto Viana, s/n, Canela, Salvador, Bahia, 40110-060, Brazil. carolinaods@hotmail.com., Leite MEQ; Fima Lifshitz Research Center at CHUPES, Federal University of Bahia, Augusto Viana, s/n, Canela, Salvador, Bahia, 40110-060, Brazil., Lasekan J; Pediatric Nutrition R&D, Abbott Nutrition, Abbott Laboratories, Cleveland Avenue, Columbus, OH, 43215-1724, USA., Baggs G; Pediatric Nutrition R&D, Abbott Nutrition, Abbott Laboratories, Cleveland Avenue, Columbus, OH, 43215-1724, USA., Pinho LS; College of Pharmacy, Federal University of Bahia, Postgraduate Programme in Food Science, Barão de Jeremoabo, s/n, Ondina, Salvador, Bahia, 40170-110, Brazil., Druzian JI; College of Pharmacy, Federal University of Bahia, Postgraduate Programme in Food Science, Barão de Jeremoabo, s/n, Ondina, Salvador, Bahia, 40170-110, Brazil., Ribeiro TCM; Fima Lifshitz Research Center at CHUPES, Federal University of Bahia, Augusto Viana, s/n, Canela, Salvador, Bahia, 40110-060, Brazil., Mattos ÂP; Fima Lifshitz Research Center at CHUPES, Federal University of Bahia, Augusto Viana, s/n, Canela, Salvador, Bahia, 40110-060, Brazil., Menezes-Filho JA; College of Pharmacy, Federal University of Bahia, Postgraduate Programme in Food Science, Barão de Jeremoabo, s/n, Ondina, Salvador, Bahia, 40170-110, Brazil., Costa-Ribeiro H; Fima Lifshitz Research Center at CHUPES, Federal University of Bahia, Augusto Viana, s/n, Canela, Salvador, Bahia, 40110-060, Brazil.

Publikováno v: Lipids in health and disease [Lipids Health Dis] 2017 Apr 14; Vol. 16 (1), pp. 78. Date of Electronic Publication: 2017 Apr 14.