Disease: Medium-chain 3-ketoacyl-coA thiolase deficiency
- 3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase
- Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD d
- Altered lipid catabolism in the vitamin A deficient liver
- Biosynthesis and characterization of poly(3-hydroxydodecanoate) by β-oxidation inhibited mutant of Pseudomonas entomophila L48
- Clinical and biochemical features of fatty acid oxidation disorders
- Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
- Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha
- Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting
- Energy exchangers with LCT as a precision method for diet control in LCHADD
- Evidence for intermediate channeling in mitochondrial beta-oxidation
- Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?
- Identification of enzymes involved in oxidation of phenylbutyrate
- 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
- Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
- Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany
- Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency
- Management of fatty acid oxidation disorders: a survey of current treatment strategies
- Mass Screening for Inborn Errors of Metabolism
- Mechanism of the development of nonalcoholic steatohepatitis after pancreaticoduodenectomy
- Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation
- Medium-chain 3-ketoacyl-CoA thiolase deficiency
- Medium-chain fatty acids undergo elongation before beta-oxidation in fibroblasts
- Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency
- Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches
- Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients
- Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
- Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts
- Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders
- PPAR signaling pathway is a key modulator of liver proteome in pups born to vitamin B(12) deficient rats
- Regulation of fatty acid metabolism by mTOR in adult murine hearts occurs independently of changes in PGC-1α
- Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases
- Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial
- Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency
- Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians