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Last Updated: 10/31/2025

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Found 636 publications

Novel Biallelic Variants in DLD Gene Cause a Reversible Sensory Neuropathy.

Novel Biallelic Variants in DLD Gene Cause a Reversible Sensory Neuropathy.

Journal: Clinical genetics
Published: June 26, 2025

Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.

Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.

Journal: Stem cell research & therapy
Published: May 14, 2025

Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).

Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).

Journal: BMJ case reports
Published: March 25, 2025

Metabolism-related gene PDK1 regulates myocardial cell remodeling and its mechanism.

Metabolism-related gene PDK1 regulates myocardial cell remodeling and its mechanism.

Journal: Stem cell research & therapy
Published: February 27, 2025

BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.

BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.

Journal: Science translational medicine
Published: February 26, 2025

Short-term methionine deprivation inhibits TCA cycle and regulates macrophage polarization through uncharged tRNA and PDHA1 phosphorylation.

Short-term methionine deprivation inhibits TCA cycle and regulates macrophage polarization through uncharged tRNA and PDHA1 phosphorylation.

Journal: The Journal of nutritional biochemistry
Published: January 21, 2025

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Journal: Journal of inherited metabolic disease
Published: January 03, 2025

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.

Journal: American journal of medical genetics. Part A
Published: December 13, 2024

Emerging role of copper in the pathophysiology of spinal cord injury.

Emerging role of copper in the pathophysiology of spinal cord injury.

Journal: Neural regeneration research
Published: November 20, 2024

PDK1-dependent metabolic reprogramming regulates stemness and tumorigenicity of osteosarcoma stem cells through ATF3.

PDK1-dependent metabolic reprogramming regulates stemness and tumorigenicity of osteosarcoma stem cells through ATF3.

Journal: Cell death & disease
Published: November 01, 2024

PDK4 and nutrient responses explain muscle specific manifestation in mitochondrial disease.

PDK4 and nutrient responses explain muscle specific manifestation in mitochondrial disease.

Journal: Clinical and translational medicine
Published: October 11, 2024

α-Ketoisocaproic Acid Disrupts Mitochondrial Bioenergetics in the Brain of Neonate Rats: Molecular Modeling Studies of α-ketoglutarate Dehydrogenase Subunits Inhibition.

α-Ketoisocaproic Acid Disrupts Mitochondrial Bioenergetics in the Brain of Neonate Rats: Molecular Modeling Studies of α-ketoglutarate Dehydrogenase Subunits Inhibition.

Journal: Neurochemical research
Published: October 01, 2024
Showing 1-12 of 636

Last Updated: 10/31/2025