Results 221 to 226 of about 22,061 (226)

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, Palaniappa Arjunan, Natalia S Nemeria   +2 more
exaly  

Prenatal presentation of pyruvate dehydrogenase complex deficiency

Pediatric Radiology, 2016
Niranjana Natarajan, Hannah M Tully, TERESA Chapman   +2 more
exaly  

Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1α Subunit Gene (PDHA1)

Neuropediatrics, 2014
J J Gargus, Virginia Kimonis
exaly  

Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency

Mitochondrion, 2006
Douglas W Theriaque, Jonathan J Shuster, Peter W Stacpoole   +2 more
exaly  

Ketonic Diet in the Management of Pyruvate Dehydrogenase Deficiency

Pediatrics, 1976
Rena E Falk, Stephen D Cederbaum, John P Blass   +2 more
exaly  

Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet

American Journal of Medical Genetics, Part A
Aaron B Bowen, Otto Rapalino, Eva-Maria Ratai   +2 more
exaly