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Fabiano de Oliveira Poswar

Universidade Federal do Rio Grande do Sul (UFRGS)

Rua Washington Luiz #855

Porto Alegre, 90010460

Brazil

  • Universidade Federal do Rio Grande do Sul (UFRGS)

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Scholarly Papers (1)

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Maple Syrup Urine Disease Diagnosis in Brazilian Patients by Massive Parallel Sequencing

Number of pages: 18 Posted: 21 May 2024
Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Rodrigo Ligabue BRAUN, Fernanda Hendges de Bitencourt, Tássia Tonon, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Maria Efigênia de Queiroz Leite, Tatiana Amorim, Gilda Porta, Joao Seda-Neto, Irene Kazumi Miura, Carlos Eduardo Steiner, Ana Maria Martins, André L. Santos Pessoa, Erlane Marques Ribeiro and Ida Vanessa Doederlein Schwartz
Universidade Federal do Rio Grande do Sul (UFRGS), Universidade Federal do Rio Grande do Sul (UFRGS), Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Universidade Federal do Rio Grande do Sul (UFRGS), Universidade Federal do Rio Grande do Sul (UFRGS), affiliation not provided to SSRN, Universidade Federal do Rio Grande do Sul (UFRGS), affiliation not provided to SSRN, APAE Salvador, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Universidade Estadual do Ceará, Hospital Infantil Albert Sabin and Universidade Federal do Rio Grande do Sul (UFRGS)
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Abstract:

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Massive parallel sequencing, molecular diagnosis, maple syrup urine disease, BCKDHA, BCKDHB, DBT