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Cell Type-Selective Loss of Peroxisomal β-Oxidation Impairs Bipolar Cell but Not Photoreceptor Survival in the Retina.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 1, p. 161, doi. 10.3390/cells11010161
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- Publication type:
- Article
The effect of mirabegron on energy expenditure and brown adipose tissue in healthy lean South Asian and Europid men.
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- Diabetes, Obesity & Metabolism, 2020, v. 22, n. 11, p. 2032, doi. 10.1111/dom.14120
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- Publication type:
- Article
Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders.
- Published in:
- FASEB Journal, 2024, v. 38, n. 4, p. 1, doi. 10.1096/fj.202302163R
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- Article
Time‐restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal muscle.
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- FASEB Journal, 2022, v. 36, n. 2, p. 1, doi. 10.1096/fj.202100707R
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- Publication type:
- Article
Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men.
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- FASEB Journal, 2021, v. 35, n. 6, p. 1, doi. 10.1096/fj.202100143R
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- Publication type:
- Article
Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
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- FASEB Journal, 2019, v. 33, n. 3, p. 4355, doi. 10.1096/fj.201801498R
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- Publication type:
- Article
Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans.
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- FASEB Journal, 2009, v. 23, n. 8, p. 2349, doi. 10.1096/fj.08-127985
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- Publication type:
- Article
The Plasma Lipidomic Landscape in Patients with Sepsis due to Community-acquired Pneumonia.
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- American Journal of Respiratory & Critical Care Medicine, 2024, v. 209, n. 8, p. 973, doi. 10.1164/rccm.202308-1321OC
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- Publication type:
- Article
The plasma kynurenine-to-tryptophan ratio as a biomarker of tuberculosis disease in people living with HIV on antiretroviral therapy: an exploratory nested case–control study.
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- BMC Infectious Diseases, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12879-024-09258-4
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- Article
Ophthalmic acid is a glutathione regulating tripeptide.
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- FEBS Journal, 2024, v. 291, n. 15, p. 3317, doi. 10.1111/febs.17061
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- Publication type:
- Article
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria.
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- Journal of Cell Biology, 2008, v. 183, n. 4, p. 681, doi. 10.1083/jcb.200803129
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- Article
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50
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- Article
Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders.
- Published in:
- 2020
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- Publication type:
- letter
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
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- 2019
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- Publication type:
- journal article
Acylcarnitines: reflecting or inflicting insulin resistance?
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- 2013
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- Publication type:
- journal article
Reflecting or Inflicting Insulin Resistance?
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- Diabetes, 2013, v. 62, n. 1, p. 1, doi. 10.2337/db12-0466
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- Publication type:
- Article
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
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- Genes, 2021, v. 12, n. 12, p. 1930, doi. 10.3390/genes12121930
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- Publication type:
- Article
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
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- Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
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- Publication type:
- Article
Meijer and Vloedman's histochemical demonstration of mitochondrial coupling obeys Lambert-Beer's law in the myocardium.
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- Histochemistry & Cell Biology, 2019, v. 151, n. 1, p. 85, doi. 10.1007/s00418-018-1716-3
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- Publication type:
- Article
Enzymology of the carnitine biosynthesis pathway.
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- IUBMB Life, 2010, v. 62, n. 5, p. 357, doi. 10.1002/iub.323
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- Publication type:
- Article
Indoleamine 2,3‐dioxygenase (IDO)‐1 and IDO‐2 activity and severe course of COVID‐19.
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- Journal of Pathology, 2022, v. 256, n. 3, p. 256, doi. 10.1002/path.5842
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- Publication type:
- Article
The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome.
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- 2017
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- Publication type:
- journal article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
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- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
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- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
- Published in:
- 2015
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- Publication type:
- journal article
New clinical and molecular insights on Barth syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-27
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- Publication type:
- Article
New clinical and molecular insights on Barth syndrome.
- Published in:
- 2013
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- Publication type:
- journal article
Submitochondrial localization of 6- N-trimethyllysine dioxygenase − implications for carnitine biosynthesis.
- Published in:
- FEBS Journal, 2007, v. 274, n. 22, p. 5845, doi. 10.1111/j.1742-4658.2007.06108.x
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- Publication type:
- Article
Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 931, doi. 10.1002/jimd.12642
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- Publication type:
- Article
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571
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- Publication type:
- Article
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1094, doi. 10.1002/jimd.12548
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- Publication type:
- Article
Barth syndrome and the many fascinating aspects of cardiolipin.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 1, doi. 10.1002/jimd.12460
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- Publication type:
- Article
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 29, doi. 10.1002/jimd.12425
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- Publication type:
- Article
High dose genistein in Sanfilippo syndrome: A randomised controlled trial.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1248, doi. 10.1002/jimd.12407
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- Publication type:
- Article
Inherited disorders of complex lipid metabolism: A clinical review.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 809, doi. 10.1002/jimd.12369
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- Publication type:
- Article
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 926, doi. 10.1002/jimd.12365
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- Publication type:
- Article
Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1265, doi. 10.1002/jimd.12275
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- Publication type:
- Article
Slc22a5 haploinsufficiency does not aggravate the phenotype of the long‐chain acyl‐CoA dehydrogenase KO mouse.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 486, doi. 10.1002/jimd.12204
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- Publication type:
- Article
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 303, doi. 10.1002/jimd.12042
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- Publication type:
- Article
Plasma lipidomics as a diagnostic tool for peroxisomal disorders.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 489, doi. 10.1007/s10545-017-0114-7
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- Publication type:
- Article
Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 479, doi. 10.1007/s10545-017-0076-9
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- Publication type:
- Article
Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad223
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- Publication type:
- Article
Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85455-4
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- Article
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
- Published in:
- 2016
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- Publication type:
- journal article
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0182379
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- Publication type:
- Article
Levels of Red Blood Cell Fatty Acids in Patients With Psychosis, Their Unaffected Siblings, and Healthy Controls.
- Published in:
- Schizophrenia Bulletin, 2016, v. 42, n. 2, p. 358, doi. 10.1093/schbul/sbv133
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- Publication type:
- Article
Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 70, doi. 10.1002/jmd2.12186
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- Publication type:
- Article
Neonatal carnitine concentrations in relation to gestational age and weight.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162
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- Publication type:
- Article
A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 79, doi. 10.1002/jmd2.12118
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- Publication type:
- Article
Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.
- Published in:
- Communications Biology, 2020, v. 3, n. 1, p. N.PAG, doi. 10.1038/s42003-020-01442-x
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- Publication type:
- Article