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Mitochondrion, ISSN 1567-7249, 11/2019, Volume 49, pp. 200 - 205
Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder with several phenotypes. Neuromyopathic form of MTP deficiency is... 
HADHB | Recurrent rhabdomyolysis | Peripheral neuropathy | Mitochondrial trifunctional protein deficiency | COMPLEX | ALPHA-SUBUNIT | VARIANTS | Mitochondria] trifunctional protein deficiency | RHABDOMYOLYSIS | CELL BIOLOGY | TFP DEFICIENCY | DEHYDROGENASE-DEFICIENCY | GENETICS & HEREDITY | COHORT | JAPANESE PATIENTS
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2016, Volume 39, Issue 1, pp. 47 - 58
Journal Article
Journal Article
Journal of Obstetrics and Gynaecology Research, ISSN 1341-8076, 05/2015, Volume 41, Issue 5, pp. 799 - 802
Journal Article
ARCHIVES OF IRANIAN MEDICINE, ISSN 1029-2977, 01/2017, Volume 20, Issue 1, pp. 22 - 27
Introduction; Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of eight parts (subunits): four alpha-subunits containing LCEH (long-chain... 
HADHB | HADHA | MEDICINE, GENERAL & INTERNAL | COMPLEX | ALPHA-SUBUNIT | Deficiency | novel mutation | BETA-SUBUNIT MUTATIONS | fatty acid oxidation | mitochondrial trifunctional protein (MTP)
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2009, Volume 40, Issue 6, pp. 465 - 467
Journal Article
Journal of Bioenergetics and Biomembranes, ISSN 0145-479X, 2/2013, Volume 45, Issue 1, pp. 47 - 57
Cardiomyopathy is a common clinical feature of some inherited disorders of mitochondrial fatty acid β-oxidation including mitochondrial trifunctional protein... 
Biochemistry, general | Heart bioenergetics | Chemistry | Mitochondria | Permeability transition | Oxidative phosphorylation | Animal Biochemistry | Animal Anatomy / Morphology / Histology | Bioorganic Chemistry | Long-chain 3-hydroxy fatty acids | Organic Chemistry | ANION | MTP DEFICIENCIES | DISORDERS | RAT-LIVER MITOCHONDRIA | FIBROBLASTS | CELL BIOLOGY | TRANSPORT | INHIBITION | BIOPHYSICS | COA | LCHAD | GENERATION | Mitochondria, Heart - metabolism | Lipid Metabolism, Inborn Errors - metabolism | Oxidation-Reduction | Rats, Wistar | Mitochondrial Myopathies | 3-Hydroxyacyl CoA Dehydrogenases - metabolism | Oxidative Phosphorylation | Oxygen Consumption | Rats | Retinitis Pigmentosa - metabolism | Rhabdomyolysis | Hydrogen Peroxide - metabolism | Peripheral Nervous System Diseases - metabolism | Animals | Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase | Mitochondrial Proteins - metabolism | Cardiomyopathies - metabolism | Myocardium - metabolism | Muscle Proteins - metabolism | Membrane Potential, Mitochondrial - physiology | 3-Hydroxyacyl CoA Dehydrogenases - deficiency | Fatty Acids - metabolism | Mitochondrial Trifunctional Protein - deficiency | Nervous System Diseases | Purines | Mitochondrial DNA | Hydrogen peroxide | Permeability | Cyclosporine | Fatty acids | Proteins | Heart | Oxidative stress | Phosphorylation
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 98, Issue 4, pp. 372 - 377
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2011, Volume 103, Issue 4, pp. 341 - 348
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2015, Volume 5, Issue C, pp. 80 - 84
We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP) deficiency, an autosomal recessive fatty... 
Fatty acid oxidation | Mitochondrial trifunctional protein (MTP) deficiency | HADHB gene | Peripheral neuropathy
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2002, Volume 20, Issue 6, pp. 447 - 451
The mitochondrial trifunctional protein (TFP) is an enzyme complex of the fatty acid β‐oxidation cycle composed of an α‐ and a β‐subunit. The two encoding... 
genetic counseling | trifunctional protein | isodisomy | UPD2 | α‐subunit | uniparental disomy | Isodisomy