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CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Autor: Poloni S; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Sperb-Ludwig F; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Borsatto T; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Weber Hoss G; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Doriqui MJR; Complexo Hospitalar Materno-Infantil do Maranhão, São Luis, Brazil., Embiruçu EK; Complexo Hospitalar Professor Edgard Santos, Universidade do Estado da Bahia, Salvador, Brazil.; Universidade do Estado da Bahia, Salvador, Brazil., Boa-Sorte N; Complexo Hospitalar Professor Edgard Santos, Universidade do Estado da Bahia, Salvador, Brazil.; Universidade do Estado da Bahia, Salvador, Brazil., Marques C; Hospital das Clínicas de Ribeirão Preto, Ribeirão Preto, Brazil., Kim CA; Universidade de São Paulo, São Paulo, Brazil., Fischinger Moura de Souza C; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Rocha H; Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Ribeiro M; Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Steiner CE; Universidade Estadual de Campinas, Campinas, Brazil., Moreno CA; Universidade Estadual de Campinas, Campinas, Brazil., Bernardi P; Universidade Federal de Santa Catarina, Florianópolis, Brazil., Valadares E; Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Artigalas O; Children's Hospital, Grupo Hospitalar Conceição, Porto Alegre, Brazil.; Genetics Unit, Hospital Materno-Infantil Presidente Vargas, Porto Alegre, Brazil., Carvalho G; Hospital de Apoio de Brasília, Brasília, Brazil., Wanderley HYC; Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória, Vitória, Brazil., Kugele J; Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany., Walter M; Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany., Gallego-Villar L; Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany., Blom HJ; Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany., Schwartz IVD; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2018 Mar; Vol. 6 (2), pp. 160-170. Date of Electronic Publication: 2018 Jan 20.