Disease: Pyruvate decarboxylase deficiency
- A case of epilepsy, movement disorders associated with a mutation in the PDHA1 gene in a preschool child
- Acute Flaccid Paralysis due to Pyruvate Dehydrogenase E1-Alpha Deficiency
- Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism
- Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency
- Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency
- Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency
- Declined flesh quality resulting from niacin deficiency is associated with elevated glycolysis and impaired mitochondrial homeostasis in grass carp (Ctenopharyngodon idella)
- Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation
- Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency
- Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models
- dldhcri3 zebrafish exhibited altered mitochondrial ultrastructure, morphology and dysfunction partially rescued by probucol or thiamine
- Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency
- Imaging brain glucose metabolism in vivo reveals propionate as a major anaplerotic substrate in pyruvate dehydrogenase deficiency
- Leigh Syndrome due to <em>MT-ATP6</em> Variants: A Case Presentation and the Review of the Literature
- Management of a patient with pyruvate dehydrogenase deficiency
- Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
- Metabolic rewiring promotes anti-inflammatory effects of glucocorticoids
- Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1
- Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report
- Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
- Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
- Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
- Perioperative considerations of pyruvate dehydrogenase complex deficiency: a case report of two consecutive anesthesia
- Plant stem cells under low oxygen: metabolic rewiring by phytoglobin underlies stem cell functionality
- Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet
- Pyruvate dehydrogenase complex deficiency masked by septic shock-induced lactic acidosis: a case report
- Pyruvate dehydrogenase-E1alpha deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications
- Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency
- Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function
- The use of ketogenic diets in children living with drug-resistant epilepsy, glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency: A scoping review
- Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene
- X-linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus