Results 221 to 230 of about 45,802 (236)

Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency

Biochimie, 2021
Diana Lousa, Catarina da Silveira Tomé, Cristina Florindo   +2 more
exaly  

Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Human Mutation, 2000
Willy Lissens, Sara Seneca, Mulchand S Patel   +2 more
exaly  

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

Molecular Genetics and Metabolism, 2012
Jonathan J Shuster
exaly  

A Nuclear Pyruvate Dehydrogenase Complex Is Important for the Generation of Acetyl-CoA and Histone Acetylation

Cell, 2014
Gopinath Sutendra, Adam S Kinnaird, Roxane Paulin   +2 more
exaly  

Sirtuin 4 Is a Lipoamidase Regulating Pyruvate Dehydrogenase Complex Activity

Cell, 2014
Rommel A Mathias, Todd M Greco, Rumela Chakrabarti   +2 more
exaly  

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency

Journal of Child Neurology, 2020
Emily Shelkowitz, Can H Fiçicioǧlu, Austin A Larson   +2 more
exaly  

Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency

Mitochondrion, 2006
Jonathan J Shuster
exaly  

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short‐ and long‐term outcomes

Journal of Inherited Metabolic Disease, 2017
Kalliopi Sofou, Maria Dahlin, Tove Hallböök   +2 more
exaly  

Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis

Science Translational Medicine, 2013
Rosa Ferriero, Giuseppe Manco, Eleonora Lamantea   +2 more
exaly  

Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the αV138M variant of human pyruvate dehydrogenase

Journal of Biological Chemistry, 2018
Matthew J Whitley, Natalia S Nemeria, Mulchand S Patel   +2 more
exaly