Mitochondrial Trifunctional Protein Deficiency Latest Advances

Find the Latest Research About Mitochondrial Trifunctional Protein Deficiency

Last Updated: 09/26/2026

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Found 161 publications

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Journal: Acta medica Philippina
Published: July 01, 2026

Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.

Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.

Journal: Molecular genetics and metabolism
Published: April 20, 2026

Corrigendum to: Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.

Corrigendum to: Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.

Journal: JCI insight
Published: April 08, 2026

Cardiac MRI reveals myocardial fibrosis and systolic dysfunction in mitochondrial trifunctional protein-deficient mice.

Cardiac MRI reveals myocardial fibrosis and systolic dysfunction in mitochondrial trifunctional protein-deficient mice.

Journal: Disease models & mechanisms
Published: March 07, 2026

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

Journal: Investigative radiology
Published: November 18, 2025

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.

Journal: Journal of inherited metabolic disease
Published: October 24, 2025

The Hidden Metabolic Threat: A Case of Fatty Acid Oxidation Disorder Masquerading as Viral Myocarditis.

The Hidden Metabolic Threat: A Case of Fatty Acid Oxidation Disorder Masquerading as Viral Myocarditis.

Journal: Cureus
Published: October 13, 2025

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.

Journal: Investigative ophthalmology & visual science
Published: September 24, 2025

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.

Journal: Journal of child neurology
Published: August 18, 2025

A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.

A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.

Journal: Expert review of clinical pharmacology
Published: July 09, 2025

LCHADD-associated chorioretinopathy (case study)

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.

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

Journal: Journal of inherited metabolic disease
Published: May 14, 2025
Showing 1-12 of 161

Last Updated: 09/26/2026