Pyruvate Dehydrogenase Deficiency Latest Advances

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

Ketogenic diet therapy for the treatment of pediatric epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: August 28, 2024

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Journal: Neurology

Published: August 05, 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

Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Journal: medRxiv : the preprint server for health sciences

Published: April 22, 2024

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency.

Journal: Molecular genetics and metabolism reports

Published: March 22, 2024

Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications.

Journal: Clinical neurology and neurosurgery

Published: February 21, 2024

Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction and leads to increased glucose uptake in tafazzin-deficient cells.

Journal: bioRxiv : the preprint server for biology

Published: February 14, 2024

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Improvement of lactic acidosis in pyruvate dehydrogenase complex deficiency using custom-made amino acid-based dialysate for peritoneal dialysis.

Improvement of lactic acidosis in pyruvate dehydrogenase complex deficiency using custom-made amino acid-based dialysate for peritoneal dialysis.

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.

Ketogenic diet therapy for the treatment of pediatric epilepsy.

Ketogenic diet therapy for the treatment of pediatric epilepsy.

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Are stroke-like events in pyruvate dehydrogenase deficiency ischemic, metabolic, or both in nature?

Are stroke-like events in pyruvate dehydrogenase deficiency ischemic, metabolic, or both in nature?

Pyruvate dehydrogenase complex deficiency masked by septic shock-induced lactic acidosis: a case report.

Pyruvate dehydrogenase complex deficiency masked by septic shock-induced lactic acidosis: a case report.

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.

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

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

Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency.

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency.

Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications.

Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications.

Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction and leads to increased glucose uptake in tafazzin-deficient cells.

Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction and leads to increased glucose uptake in tafazzin-deficient cells.