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    • Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK 

      Arita, Juliana Harumi [UNIFESP]; Barros, Mario H.; Ravagnani, Felipe Gustavo; Ziosi, Marcello; Sanches, Livia Rentas; Picosse, Fabíola Rosa [UNIFESP]; Lopes, Tania Oliveira; Aguiar, Patricia de Carvalho [UNIFESP]; Macabelli, Carolina Habermann; Chiaratti, Marcos R.; Pedroso, Jose Luiz [UNIFESP]; Quinzii, Catarina M.; Barsottini, Orlando Graziani Povoas [UNIFESP]; Ferreiro-Barros, Claudia Cristina [UNIFESP] (Elsevier Science Bv, 2018)
      AMP-activated protein kinase (AMPK) regulates many different metabolic pathways in eukaryote cells including mitochondria biogenesis and energy homeostasis. Here we identify a patient with hypotonia, weakness, delayed ...