Search Results - "dos Reis, Bianca Gomes"

Evidence That Long-Term Treatment Prevents Tissue Oxidative Damage in Patients With Inherited Disorders of the Propionate Pathway by Dos Reis, Bianca Gomes, Becker, Graziela Schmitt, Marchetti, Desiree Padilha, Coelho, Daniella de Moura, Sitta, Angela, Wajner, Moacir, Vargas, Carmen Regla

“…Propionic and methylmalonic acidemias (PAcidemia and MMAcidemia, respectively) are genetic disorders clinically characterized by metabolic decompensation…”
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Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene by Sitta, Angela, Guerreiro, Gilian, de Moura Coelho, Daniella, da Rocha, Vitoria Volfart, dos Reis, Bianca Gomes, Sousa, Carmen, Vilarinho, Laura, Wajner, Moacir, Vargas, Carmen Regla

“…Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene…”
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Neurodegenerative biomarkers and inflammation in patients with propionic and methylmalonic acidemias: effect of L-carnitine treatment by dos Reis, Bianca Gomes, Becker, Graziela Schmitt, Marchetti, Desirèe Padilha, de Moura Coelho, Daniella, Sitta, Angela, Wajner, Moacir, Vargas, Carmen Regla

“…Propionic and methylmalonic acidemias (PAcidemia and MMAcidemia, respectively) are genetic disorders characterized by acute metabolic decompensation and…”
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Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy by Lopes, Franciele Fátima, Sitta, Angela, Moura Coelho, Daniella, Ribas, Graziela Schmitt, Faverzani, Jéssica Lamberty, Reis, Bianca Gomes, Wajner, Moacir, Vargas, Carmen Regla

“…Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved in the urea cycle. The impairment of…”
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