Condition: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


rs1057516217 in GAREM2;HADHA gene and Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID 23430857 2012 Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

PMID 10518281 1999 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.

PMID 15902556 2005 Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

PMID 9266371 1997 Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

PMID 7811722 1994 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.

PMID 8770876 1996 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.

PMID 14630990 2004 General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

PMID 20583174 2010 Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

PMID 7846063 1995 The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

PMID 26024122 2015 Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

PMID 8865274 1996 Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.

PMID 27491397 2016 Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.

PMID 10352164 1999 A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

PMID 29519241 2018 Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

PMID 12442268 2002 Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

PMID 11855930 2002 Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

PMID 12971428 2003 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.

PMID 12237653 2002 Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.

PMID 21549624 2011 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

rs1057516417 in HADHA gene and Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID 7738175 1995 Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

PMID 21549624 2011 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

PMID 22459206 2012 Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

PMID 21103935 2011 Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

PMID 10352164 1999 A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

PMID 10234607 1999 Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

PMID 7846063 1995 The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

PMID 7811722 1994 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.

PMID 9266371 1997 Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

PMID 9739053 1998 Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

PMID 29268767 2017 Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.

PMID 14630990 2004 General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

PMID 14694500 2004 Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

PMID 23798014 2013 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

PMID 19852779 2009 Next generation sequence analysis for mitochondrial disorders.

PMID 20659813 2011 Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening.

PMID 15902556 2005 Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 23868323 2013 Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.

PMID 27491397 2016 Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.

PMID 26109258 2016 Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

rs779113356 in HADHA;GAREM2 gene and Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID 21549624 2011 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.