Associated Papers
Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disorders.
Verberk SGS et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M et al.
Journal of Inherited Metabolic Disease, 2022
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M et al.
Journal of Inherited Metabolic Disease, 2022
Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.
Guan Y et al.
Frontiers in Neurology, 2021
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
van Vliet P et al.
Jimd Reports, 2018
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Boutron A et al.
Molecular Genetics and Metabolism, 2011
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