Condition: Trifunctional Protein Deficiency With Myopathy And Neuropathy


rs137852769 in GAREM2;HADHA gene and Trifunctional Protein Deficiency With Myopathy And Neuropathy 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 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 15902556 2005 Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

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

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

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

rs1057516417 in HADHA gene and Trifunctional Protein Deficiency With Myopathy And Neuropathy 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 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 7738175 1995 Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

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

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

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

PMID 12809642 2003 Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

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

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 19433283 2009 Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.

PMID 22065858 2012 Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

rs1167218743 in HADHA;GAREM2 gene and Trifunctional Protein Deficiency With Myopathy And Neuropathy 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 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 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 22459206 2012 Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

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

rs113112630 in HADHB gene and Trifunctional Protein Deficiency With Myopathy And Neuropathy 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 8651282 1996 Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

PMID 12754706 2003 Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

PMID 9259266 1997 Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.