Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability. - Wikidata - awgldk - TriplyDB

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

http://www.wikidata.org/entity/Q38106893

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Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies Endothelial cell metabolism: parallels and divergences with cancer cell metabolism Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog.Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States Fatty acid degradation plays an essential role in proliferation of mouse female primordial germ cells via the p53-dependent cell cycle regulation.Equine atypical myopathy in the UK: Epidemiological characteristics of cases reported from 2011 to 2015 and factors associated with survival.Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.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 open Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.The investigation and management of metabolic myopathies.Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.

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P2860

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

http://www.wikidata.org/entity/Q38106893

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Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

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Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

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Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

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Journal of Inherited Metabolic Disease

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Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

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Simon E Olpin

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P2860

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Identification and characterization of new long chain acyl-CoA dehydrogenases

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

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

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

A description of large-scale metabolomics studies: increasing value by combining metabolomics with genome-wide SNP genotyping and transcriptional profiling

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

Liver disease in pregnancy and fetal fatty acid oxidation defects

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

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