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Last Updated: 10/31/2025
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Found 240 publications
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
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
D-BHB supplementation before moderate-intensity exercise suppresses lipolysis and selectively blunts exercise-induced long-chain acylcarnitine increase in pilot study of patients with long-chain fatty acid oxidation disorders.
Journal: Molecular genetics and metabolism
Published: March 18, 2024
The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.
Journal: Molecular genetics and metabolism reports
Published: February 12, 2024
Last Updated: 10/31/2025