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Disease on EC 1.1.1.211 - long-chain-3-hydroxyacyl-CoA dehydrogenase and Organism(s) Homo sapiens

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DISEASE
TITLE OF PUBLICATION
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3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
acid phosphatase deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Acidosis
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Acidosis, Lactic
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation.
Acute Kidney Injury
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment.
Adenocarcinoma
HADHA is a potential predictor of response to platinum-based chemotherapy for lung cancer.
Adrenal Hyperplasia, Congenital
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Adrenoleukodystrophy
Metabolic disorders in children.
Anemia, Sickle Cell
Prepregnancy testing for single-gene disorders by polar body analysis.
arylsulfatase (type i) deficiency
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Ataxia
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Biotinidase Deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Blindness
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency.
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Brain Diseases
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Breast Neoplasms
Association of HADHA expression with the risk of breast cancer: targeted subset analysis and meta-analysis of microarray data.
Carcinogenesis
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
The mRNA Expression Signature and Prognostic Analysis of Multiple Fatty Acid Metabolic Enzymes in Clear Cell Renal Cell Carcinoma.
Carcinoma
HADHA is a potential predictor of response to platinum-based chemotherapy for lung cancer.
HADHA overexpression disrupts lipid metabolism and inhibits tumor growth in clear cell renal cell carcinoma.
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.
Carcinoma, Hepatocellular
Defects in long-chain 3-hydroxy acyl-CoA dehydrogenase lead to hepatocellular carcinoma: A novel etiology of hepatocellular carcinoma.
Carcinoma, Renal Cell
HADHA overexpression disrupts lipid metabolism and inhibits tumor growth in clear cell renal cell carcinoma.
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Cardiomyopathies
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
Long-chain fatty acid oxidation during early human development.
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?
[Hypoglycaemia without ketosis. A case report]
Cardiomyopathy, Dilated
Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase.
Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Cardiomyopathy, Hypertrophic
Generation of an induced pluripotent stem cell line, ICGi028-A, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.E510Q mutation in HADHA.
Transient central diabetes insipidus induced by ketamine infusion.
Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
carnitine o-palmitoyltransferase deficiency
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Cataract
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
Charcot-Marie-Tooth Disease
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
Cholestasis
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Choroidal Neovascularization
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY.
Citrullinemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Coma
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Cone-Rod Dystrophies
MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.
Congenital Abnormalities
[Acute liver failure related to inherited metabolic diseases in young children].
Congenital Hypothyroidism
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
COVID-19
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Cystic Fibrosis
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
Prepregnancy testing for single-gene disorders by polar body analysis.
Dyslipidemias
Tissue specific expression of human fatty acid oxidation enzyme genes in late pregnancy.
Encephalitis, Japanese
Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid ?-oxidation.
Enterocolitis, Necrotizing
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Epstein-Barr Virus Infections
[EBV infection revealing a long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in a 3-year-old boy.]
Fatty Liver
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy.
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.
beta-Oxidation in human alcoholic and non-alcoholic hepatic steatosis.
Cryo-EM structure of human mitochondrial trifunctional protein.
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - A common feature of the pregnancy complication?
Highly active antiretroviral therapy does not affect mitochondrial beta-oxidation of fatty acids: an in vitro study in fibroblasts.
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
Lack of common mutation in the alfa-subunit of the mitochondrial trifunctional protein and the polymorphism of CYP2E1 in three Japanese women with acute fatty liver of pregnancy/HELLP syndrome.
Liver diseases unique to pregnancy: A 2010 update.
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.
Protein acetylation in mitochondria plays critical functions in the pathogenesis of fatty liver disease.
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Fetal Growth Retardation
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
Fructose Intolerance
[Acute liver failure related to inherited metabolic diseases in young children].
Galactosemias
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
[Acute liver failure related to inherited metabolic diseases in young children].
Gaucher Disease
Prepregnancy testing for single-gene disorders by polar body analysis.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Genetic Diseases, Inborn
Energy exchangers with LCT as a precision method for diet control in LCHADD.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Glucose Intolerance
Inhibition of mitochondrial ?-oxidation by miR-107 promotes hepatic lipid accumulation and impairs glucose tolerance in vivo.
glutaryl-coa dehydrogenase (etf) deficiency
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
Heart Failure
Chronic congestive heart failure elicits adaptations of endurance exercise in diaphragmatic muscle.
HELLP Syndrome
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Liver disease in pregnancy and fetal fatty acid oxidation defects.
Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.
Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome.
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
[Variation of long-chain 3-hydroxyacyl CoA dehydrogenase DNA methylated modification and correlation with gene mRNA expression of early-onset preeclampsia, HELLP syndrome and antiphospholipid syndrome in trophoblast cells of placenta].
Hemophilia B
Prepregnancy testing for single-gene disorders by polar body analysis.
Hepatitis C
Hepatitis C virus attenuates mitochondrial lipid ?-oxidation by down-regulating mitochondrial trifunctional protein expression.
Hepatolenticular Degeneration
Metabolic disorders in children.
Hepatomegaly
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
HIV Infections
Reconnaissance of the candidate genes involved in the pathogenesis of human immunodeficiency virus and targeted by antiretroviral therapy.
Homocystinuria
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Hyperargininemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Hyperglycemia
Inhibition of mitochondrial ?-oxidation by miR-107 promotes hepatic lipid accumulation and impairs glucose tolerance in vivo.
Hyperphosphatemia
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypocalcemia
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypoglycemia
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities.
Long-chain fatty acid oxidation during early human development.
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Hypoparathyroidism
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Mutations in HADHB, which encodes the ?-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Infections
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Insulin Resistance
Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance.
Selective hepatic insulin resistance in mice heterozygous for a mitochondrial trifunctional protein defect.
isovaleryl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Leukodystrophy, Globoid Cell
Metabolic disorders in children.
Lipidoses
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Liver Cirrhosis
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.
Liver Diseases
Absence of G1528C mutation in long-chain 3-hydroxyacyl-CoA dehydrogenase in four Indian patients with pregnancy-related liver disease.
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - A common feature of the pregnancy complication?
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
Protein acetylation in mitochondria plays critical functions in the pathogenesis of fatty liver disease.
Regulation of Mitochondrial Trifunctional Protein Modulates Nonalcoholic Fatty Liver Disease in Mice.
Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency.
Liver Failure
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
[Hypoglycaemia without ketosis. A case report]
long-chain acyl-coa dehydrogenase deficiency
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Round Table Discussion.
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.
A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy.
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 deficiency.
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.
Altered Body Composition, and Energy Expenditure but Normal Glucose Tolerance among Humans with a Long-Chain Fatty Acid Oxidation Disorder.
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Analysis of 3-hydroxydodecanedioic acid for studies of fatty acid metabolic disorders: preparation of stable isotope standards.
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY.
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
Clinical applications of 3-hydroxy fatty acid analysis by gas chromatography-mass spectrometry.
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association.
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 subunit gene.
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Cryo-EM structure of human mitochondrial trifunctional protein.
Deregulation of mitochondrial functions provoked by long-chain fatty acid accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial permeability transition deficiencies in rat heart--mitochondrial permeability transition pore opening as a potential contributing pathomechanism of cardiac alterations in these disorders.
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts.
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscle.
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function.
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY.
Effect of Feeding, Exercise, and Genotype on Plasma 3-Hydroxyacylcarnitines in Children With LCHAD Deficiency.
Effects of a low-dose L-carnitine supplement on an adult patient with mitochondrial trifunctional protein deficiency.
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - A common feature of the pregnancy complication?
Energy exchangers with LCT as a precision method for diet control in LCHADD.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Erratum to "Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients" [Eur J Paediatr Neuro 20 (2016) 38-44].
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Fatty Acid Accumulation and Resulting PPAR? Activation in Fibroblasts due to Trifunctional Protein Deficiency.
Fatty acid oxidation disorders: outcome and long-term prognosis.
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Formation of the enzyme complex in mitochondria is required for function of trifunctional beta-oxidation protein.
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.
High vulnerability of the heart and liver to 3-hydroxypalmitic acid-induced disruption of mitochondrial functions in intact cell systems.
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation.
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis.
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Improved detection of the G1528C mutation in LCHAD deficiency.
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
Increased lipolysis in LCHAD deficiency.
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Liver disease in pregnancy and fetal fatty acid oxidation defects.
Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C).
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
Management of an LCHADD Patient During Pregnancy and High Intensity Exercise.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.
Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
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 fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.
Mitochondrial trifunctional protein deficiency in a lethal neonate.
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
Mitochondrial trifunctional protein deficiency: A rare cause of adult-onset rhabdomyolysis.
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.
Molecular genetics of preeclampsia and HELLP syndrome - A review.
Morphological investigation of two sibling autopsy cases of mitochondrial trifunctional protein deficiency.
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.
MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.
Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.
Mutations in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase are Associated with Placental Maternal Floor Infarction/Massive Perivillous Fibrin Deposition.
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect.
Neonatal screening for defects of the mitochondrial trifunctional protein.
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots-A Systematic Review of Test Accuracy.
Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.
Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor.
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening.
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation.
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency.
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.
Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub "Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation".
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.
Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy.
Round Table Discussion.
Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls.
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment.
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes.
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement.
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.
Transient central diabetes insipidus induced by ketamine infusion.
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy.
Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency.
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health.
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?
When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex.
[Acute liver failure related to inherited metabolic diseases in young children].
[EBV infection revealing a long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in a 3-year-old boy.]
[Hypoglycaemia without ketosis. A case report]
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]
[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, asociation with HELLP and magnetic resonance spectroscopy findings].
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]
[Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency]
[Mitochondrial trifunctional protein deficiency]
Lung Neoplasms
HADHA is a potential predictor of response to platinum-based chemotherapy for lung cancer.
Lymphohistiocytosis, Hemophagocytic
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Lymphoma
Fatty acid beta oxidation enzyme HADHA is a novel potential therapeutic target in malignant lymphoma.
HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma.
Lymphoma, B-Cell
Fatty acid beta oxidation enzyme HADHA is a novel potential therapeutic target in malignant lymphoma.
Lymphoma, Large B-Cell, Diffuse
Fatty acid beta oxidation enzyme HADHA is a novel potential therapeutic target in malignant lymphoma.
Maple Syrup Urine Disease
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
medium-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Metabolic Diseases
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.
Metabolism, Inborn Errors
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
[Study of the inborn errors of mitochondrial fatty acid beta-oridation deficiency.]
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Mitochondrial Diseases
Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Multiple Sulfatase Deficiency Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Muscle Hypotonia
Highly thermostable RadA protein from the archaeon Pyrococcus woesei enhances specificity of simplex and multiplex PCR assays.
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Muscle Weakness
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
[Hypoglycaemia without ketosis. A case report]
Muscular Diseases
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
Improved detection of the G1528C mutation in LCHAD deficiency.
Myalgia
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
Myoglobinuria
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
Myopia, Degenerative
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
Neoplasm Metastasis
MiR-612 regulates invadopodia of hepatocellular carcinoma by HADHA-mediated lipid reprogramming.
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Neoplasms
HADHA overexpression disrupts lipid metabolism and inhibits tumor growth in clear cell renal cell carcinoma.
MiR-612 regulates invadopodia of hepatocellular carcinoma by HADHA-mediated lipid reprogramming.
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.
Two-dimensional gel electrophoresis of gastric tissue in an alkaline pH range.
[Interaction among abnormal fatty acid oxidation, endothelial function disorder, and oxidative stress in the onset of severe preeclampsia]
Nephrotic Syndrome
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association.
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Neurologic Manifestations
Long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies induce oxidative stress in rat brain.
Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: a possible role of mPTP opening as a pathomechanism in these disorders?
Neutropenia
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Niemann-Pick Diseases
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Non-alcoholic Fatty Liver Disease
Acetylation of Mitochondrial Trifunctional Protein ?-subunit Enhances Its Stability to Promote Fatty Acid Oxidation and Is Decreased in NAFLD.
Protein acetylation in mitochondria plays critical functions in the pathogenesis of fatty liver disease.
Regulation of Mitochondrial Trifunctional Protein Modulates Nonalcoholic Fatty Liver Disease in Mice.
Obesity
Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
The role of protein-mediated transport in regulating mitochondrial long-chain fatty acid oxidation.
Obstetric Labor, Premature
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
Overweight
Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Pancreatic Neoplasms
Integrated lipidomics and proteomics reveal cardiolipin alterations, upregulation of HADHA and long chain fatty acids in pancreatic cancer stem cells.
Peripheral Nervous System Diseases
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Peroxisomal Disorders
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Phenylketonurias
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Prepregnancy testing for single-gene disorders by polar body analysis.
Pneumonia
Transient central diabetes insipidus induced by ketamine infusion.
Polyneuropathies
Mutations in HADHB, which encodes the ?-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Pre-Eclampsia
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Decreased mitochondrial fatty acid oxidation in placentas from women with preeclampsia.
Fatty acid oxidation changes and the correlation with oxidative stress in different preeclampsia-like mouse models.
Highly active antiretroviral therapy does not affect mitochondrial beta-oxidation of fatty acids: an in vitro study in fibroblasts.
Inhibition of nitric oxide synthase lowers fatty acid oxidation in preeclampsia-like mice at early gestational stage.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
[Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant]
[The changes of LCHAD in preeclampsia with different clinical features and the correlation with NADPH P47-phox, p38MAPK-?, COX-2 and serum FFA and TG].
[Variation of long-chain 3-hydroxyacyl-CoA dehydrogenase DNA methylation in placenta of different preeclampsia-like mouse models].
Pregnancy Complications
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - A common feature of the pregnancy complication?
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Propionic Acidemia
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Prostatic Neoplasms
A novel fatty acid-binding protein 5-estrogen-related receptor ? signaling pathway promotes cell growth and energy metabolism in prostate cancer cells.
Protein Deficiency
A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Cryo-EM structure of human mitochondrial trifunctional protein.
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Effects of a low-dose L-carnitine supplement on an adult patient with mitochondrial trifunctional protein deficiency.
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Fatty Acid Accumulation and Resulting PPAR? Activation in Fibroblasts due to Trifunctional Protein Deficiency.
Formation of the enzyme complex in mitochondria is required for function of trifunctional beta-oxidation protein.
Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.
Mitochondrial trifunctional protein deficiency in a lethal neonate.
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
Mitochondrial trifunctional protein deficiency: A rare cause of adult-onset rhabdomyolysis.
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.
Morphological investigation of two sibling autopsy cases of mitochondrial trifunctional protein deficiency.
Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect.
Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots-A Systematic Review of Test Accuracy.
Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.
Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub "Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation".
Round Table Discussion.
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes.
The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement.
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health.
[Mitochondrial trifunctional protein deficiency]
Pulmonary Disease, Chronic Obstructive
TNF-{alpha} impairs regulation of muscle oxidative phenotype: implications for cachexia?
Respiratory Distress Syndrome
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Respiratory Insufficiency
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
Retinal Dystrophies
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.
Retinitis Pigmentosa
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.
MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.
Retinoschisis
RETINAL PHENOTYPE IN A CASE OF LCHAD/TFP DEFICIENCY WITH LATE-STAGE DIAGNOSIS.
Reye Syndrome
Improved detection of the G1528C mutation in LCHAD deficiency.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
Rhabdomyolysis
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscle.
Fatty acid oxidation disorders: outcome and long-term prognosis.
Increased anaerobic glycolysis in mitochondrial trifunctional protein-deficient brain.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Long-chain fatty acid oxidation during early human development.
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 trifunctional protein deficiency with recurrent rhabdomyolysis.
Mitochondrial trifunctional protein deficiency: A rare cause of adult-onset rhabdomyolysis.
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
The etiology of rhabdomyolysis: an interaction between genetic susceptibilities and external triggers.
[Hypoglycaemia without ketosis. A case report]
Stroke
Stimulation of astrocyte fatty acid oxidation by thyroid hormone is protective against ischemic stroke-induced damage.
Thalassemia
Prepregnancy testing for single-gene disorders by polar body analysis.
Tyrosinemias
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
[Acute liver failure related to inherited metabolic diseases in young children].
very-long-chain acyl-coa dehydrogenase deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Wolman Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.