Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U et al.
Annals of Clinical and Translational Neurology, 2024
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.
Zhang T et al.
Human Mutation, 2023
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K et al.
Nutrients, 2021
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
Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.
Uzun ÖÜ et al.
The Turkish Journal of Pediatrics, 2021
Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.
Wei CJ et al.
Chinese Medical Journal, 2020
Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Liu ZR et al.
Mitochondrion, 2019
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Kang E et al.
Bmc Pediatrics, 2018
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
Bo R et al.
Journal of Human Genetics, 2017
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Djouadi F et al.
Journal of Inherited Metabolic Disease, 2016
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.
Fu X et al.
Molecular Genetics and Metabolism Reports, 2015
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
Yamaguchi S et al.
Molecular Genetics and Metabolism, 2012
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
[Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant].
Wang R et al.
Zhonghua Fu Chan Ke Za Zhi, 2006
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