Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) 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

A Case of Adult-Onset VLCAD Deficiency.

Journal: Journal of clinical neuromuscular disease

Published: June 13, 2025

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

Journal: Genes

Published: April 10, 2025

Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.

Journal: Molecular genetics & genomic medicine

Published: March 27, 2025

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Journal: Journal of inherited metabolic disease

Published: March 22, 2025

Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype-phenotype analysis in a Saudi tertiary center.

Journal: Frontiers in genetics

Published: February 27, 2025

Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.

Journal: Molecular genetics and metabolism

Published: January 26, 2025

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.

Journal: International journal of neonatal screening

Published: January 24, 2025

Pearson syndrome with atypical presentation of short stature and atypical limb proportions - First reported case in Slovakia.

Journal: Mitochondrion

Published: January 20, 2025

Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

Journal: Neuropediatrics

Published: December 19, 2024

Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 23, 2024

Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics.

Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids

Published: August 01, 2024