Works matching DE "FATTY acid oxidation disorders"
Results: 23
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.
- Published in:
- Case Reports in Genetics, 2015, p. 1, doi. 10.1155/2015/532090
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- Publication type:
- Article
A CAFEÍNA POTENCIALIZA O DESEMPENHO EM ATIVIDADES DE ENDURANCE?
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- Brazilian Journal of Biomotricity, 2012, v. 6, n. 3, p. 144
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- Publication type:
- Article
Impact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's box.
- Published in:
- 2015
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- Publication type:
- Editorial
Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity.
- Published in:
- 2015
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- Publication type:
- Case Study
Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies.
- Published in:
- Bioscience Reports, 2016, v. 36, n. 1, p. 1, doi. 10.1042/BSR20150240
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- Publication type:
- Article
Insulin resistance: cross-talk between adipose tissue and skeletal muscle, through free fatty acids, liver X receptor, and peroxisome proliferator-activated receptor-α signaling.
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- Hormone Molecular Biology & Clinical Investigation, 2013, v. 15, n. 3, p. 115, doi. 10.1515/hmbci-2013-0019
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- Publication type:
- Article
Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.
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- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0156738
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- Publication type:
- Article
Ribosomal Proteins RPS11 and RPS20, Two Stress-Response Markers of Glioblastoma Stem Cells, Are Novel Predictors of Poor Prognosis in Glioblastoma Patients.
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- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141334
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- Publication type:
- Article
Abbreviated Half-Lives and Impaired Fuel Utilization in Carnitine Palmitoyltransferase II Variant Fibroblasts.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119936
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- Publication type:
- Article
HELLP Syndrome: Altered Hypoxic Response of the Fatty Acid Oxidation Regulator SIRT 4.
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- Reproductive Sciences, 2017, v. 24, n. 4, p. 568, doi. 10.1177/1933719116667216
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- Publication type:
- Article
The Regulation of Fatty Acid Oxidation in Human Preeclampsia.
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- Reproductive Sciences, 2016, v. 23, n. 10, p. 1422, doi. 10.1177/1933719116641759
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- Publication type:
- Article
Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.
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- BMC Biology, 2016, v. 14, p. 1, doi. 10.1186/s12915-016-0327-5
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- Publication type:
- Article
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
- Published in:
- 2016
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- Publication type:
- journal article
Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-79
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- Publication type:
- Article
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-102
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- Publication type:
- Article
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
- Published in:
- 2018
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- Publication type:
- journal article
Cyclic vomiting syndrome masking a fatal metabolic disease.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 5, p. 707, doi. 10.1007/s00431-012-1852-z
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- Publication type:
- Article
Novel biomarkers for inborn errors of metabolism in the metabolomics era.
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- Indian Journal of Biochemistry & Biophysics, 2018, v. 55, n. 5, p. 314
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- Publication type:
- Article
Fatty Acid Beta-Oxidation Disorders: A Brief Review.
- Published in:
- Annals of Neurosciences, 2016, v. 23, n. 1, p. 51, doi. 10.1159/000443556
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- Publication type:
- Article
Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation and Inhibits Apoptotic Cell Death in Abcd1-Deficient Glial Cells.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0070712
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- Publication type:
- Article
Chronic Treatment with the AMP-Kinase Activator AICAR Increases Glycogen Storage and Fatty Acid Oxidation in Skeletal Muscles but Does Not Reduce Hyperglucagonemia and Hyperglycemia in Insulin Deficient Rats.
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- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0062190
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- Publication type:
- Article
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
- Published in:
- 2018
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- Publication type:
- journal article
Next generation sequencing with copy-numbervariant detection expands the phenotypic spectrum of HSD17B4-deficiency.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-30
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- Publication type:
- Article