Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Latest Advances

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Journal: Journal of inherited metabolic disease

Published: October 24, 2025

Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.

Journal: Investigative ophthalmology & visual science

Published: September 24, 2025

How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.

Journal: International journal of molecular sciences

Published: August 31, 2025

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Journal: Journal of child neurology

Published: August 18, 2025

LCHADD-associated chorioretinopathy (case study)

Journal: Vestnik oftalmologii

Published: July 01, 2025

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.

Journal: Journal of inherited metabolic disease

Published: May 14, 2025

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 11, 2025

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).

Journal: Journal of inherited metabolic disease

Published: March 24, 2025

Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.

Journal: Lipids

Published: February 27, 2025

Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.

Journal: Archivos de la Sociedad Espanola de Oftalmologia

Published: January 09, 2025

Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.

Journal: Cardiology in the young

Published: January 09, 2025

Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.

Journal: International journal of neonatal screening

Published: November 05, 2024

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Latest Advances

Find the Latest Research About Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.

Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.

How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.

How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

LCHADD-associated chorioretinopathy (case study)

LCHADD-associated chorioretinopathy (case study)

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).

Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.

Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.

Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.

Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.

Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.

Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.

Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.

Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.