Search Results - "Fernandes de Oliveira Filho, Antonio"

A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases by Lima, Josivan Gomes, Helena C Nobrega, Lucia, Moura Bandeira, Flora Tamires, Pires Sousa, Andre Gustavo, Medeiros de Araujo Macedo, Taisa Barreto, Cavalcante Nogueira, Ana Claudia, Fernandes de Oliveira Filho, Antonio, Alves, Renato Jorge, Costa Gurgel Castelo, Maria Helane, Silva Coelho, Fabiana Maria, Maia, Rayana Elias, Lima, Debora Nobrega, Timoteo, Ana Rafaela de Souza, de Melo Campos, Julliane Tamara Araujo

“…GPIHBP1 is an accessory protein of lipoprotein lipase (LPL) essential for its functioning. Mutations in the GPIHBP1 gene cause a deficit in the action of LPL,…”
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Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil by da Silva, Monique Alvares, Soares, Reivla Marques Vasconcelos, de Oliveira Filho, Antônio Fernandes, Campos, Leonardo René Santos, de Lima, Josivan Gomes, de Melo Campos, Julliane Tamara Araújo

“…Type 3 Familial Partial Lipodystrophy (FPLD3) is a rare metabolic disease related to pathogenic PPARG gene variants. FPLD3 is characterized by a loss of fatty…”
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