Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Felipe Maciel Catarino"'
Autor:
Caroline Paula Mescka, Fernanda Poletto, Bruna Donida, Andrea Pereira Rosa, Camila Vieira Pinheiro, Esteban Alberto Gonzalez, Felipe Maciel Catarino, Carlos Severo Dutra-Filho, Guilherme Baldo, Angela Sitta, Daniella de Moura Coelho, Carmen Regla Vargas
Publikováno v:
Metabolic Brain Disease. 36:1015-1027
Maple syrup urine disease (MSUD) is a genetic disorder that leads the accumulation of branched-chain amino acids (BCAA) leucine (Leu), isoleucine, valine and metabolites. The symptomatology includes psychomotor delay and mental retardation. MSUD ther
Autor:
Angela de Mattos-Dutra, Caroline Paula Mescka, Cristina Campos, Débora Dalmas Graf, Rayane Brinck Teixeira, Alex Sander da Rosa Araujo, Carlos Severo Dutra-Filho, Andrea Pereira Rosa, Alexandre Luz de Castro, Felipe Maciel Catarino, Guilherme Baldo
Publikováno v:
Metabolic brain disease. 33(1)
Several studies have examined neonatal diabetes, a rare disease characterized by hyperglycemia and low insulin levels that is usually diagnosed in the first 6 month of life. Recently, the effects of diabetes on the brain have received considerable at
Autor:
Andrea Pereira Rosa, Angela Sitta, Gabriel H. Schirmbeck, Carlos Severo Dutra-Filho, Gilian Guerreiro, Caroline Paula Mescka, Thales Hein da Rosa, Carmen Regla Vargas, Laila Souza, Felipe Maciel Catarino
Publikováno v:
Molecular neurobiology. 53(9)
Maple syrup urine disease (MSUD), or branched-chain α-keto aciduria, is an inherited disorder that is caused by a deficiency in branched-chain α-keto acid dehydrogenase complex (BCKAD) activity. Blockade of this pathway leads to the accumulation of