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Last Updated: 10/31/2025
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Found 503 publications
A primary mechanism for efficacy of the ketogenic diet may be energy repletion at the tripartite synapse.
Journal: Journal of neural engineering
Published: July 14, 2025
Copper Deficiency Presenting With Bicytopenia During Long-Term Parenteral Nutrition for Short Bowel Syndrome: A Case Report and Literature Review.
Journal: Cureus
Published: May 07, 2025
Ketogenic diet in neonates: effects, pitfalls, and a paradigm from a preterm newborn affected by pyruvate dehydrogenase deficiency.
Journal: Journal of perinatology : official journal of the California Perinatal Association
Published: May 06, 2025
PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.
Journal: Clinical therapeutics
Published: November 07, 2024
Improvement of lactic acidosis in pyruvate dehydrogenase complex deficiency using custom-made amino acid-based dialysate for peritoneal dialysis.
Journal: Pediatric nephrology (Berlin, Germany)
Published: October 21, 2024
Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.
Journal: Frontiers in pediatrics
Published: September 11, 2024
Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.
Journal: Neurology
Published: August 05, 2024
A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro.
Journal: Italian journal of pediatrics
Published: May 31, 2024
Are stroke-like events in pyruvate dehydrogenase deficiency ischemic, metabolic, or both in nature?
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: May 27, 2024
Pyruvate dehydrogenase complex deficiency masked by septic shock-induced lactic acidosis: a case report.
Journal: The Journal of international medical research
Published: May 24, 2024
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.
Journal: Molecular genetics and metabolism reports
Published: May 23, 2024
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet.
Journal: American journal of medical genetics. Part A
Published: April 22, 2024
Last Updated: 10/31/2025