Pyruvate Decarboxylase Deficiency Latest Advances
Find the Latest Research About Pyruvate Decarboxylase Deficiency
Last Updated: 11/08/2026
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Found 521 publications
Neurometabolic Epilepsies: A Practical Guide to Recognition, Diagnostic Workup, and Precision Treatment.
Journal: Turkish archives of pediatrics
Published: October 02, 2026
Dichloroacetate improves animal survival, growth, neuromuscular activity, mitochondrial stress and physiology, and elevated lactate in C. elegans pdha-1 and dld-1 RNAi models of pyruvate dehydrogenase complex deficiency (PDCD).
Journal: bioRxiv : the preprint server for biology
Published: July 17, 2026
Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).
Journal: Journal of inherited metabolic disease
Published: July 17, 2026
Hyperinflammatory syndromes in primary mitochondrial disease: A three-center case series and focused review.
Journal: Molecular genetics and metabolism
Published: July 03, 2026
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.
Journal: Journal of inherited metabolic disease
Published: May 29, 2026
Animal models of pyruvate dehydrogenase complex deficiency: insight into mechanisms of cerebral abnormalities and tissue-specific role in metabolism.
Journal: Frontiers in medicine
Published: April 20, 2026
A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.
Journal: Neurology
Published: April 14, 2026
Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data.
Journal: Molecular genetics and metabolism
Published: April 03, 2026
Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.
Journal: Annals of clinical and translational neurology
Published: March 25, 2026
Primary Pyruvate Dehydrogenase Complex Deficiency Mimicking Cytomegalovirus Foetopathy on Prenatal Brain Imaging: A Case Report - An Alternative Diagnosis to Consider when Faced with Negative Infectious Work-Up.
Journal: Fetal diagnosis and therapy
Published: March 23, 2026
Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.
Journal: International journal of molecular sciences
Published: January 13, 2026
From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
Journal: Journal of child neurology
Published: December 23, 2025
Last Updated: 11/08/2026