Page last updated: 2024-09-03

pristanic acid and Lipid Metabolism, Inborn Error

pristanic acid has been researched along with Lipid Metabolism, Inborn Error in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's1 (33.33)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Freeman, WD; Gavrilov, DK; Matern, D; Oglesbee, D; Smith, EH; Tortorelli, S; Vavra, MW1
Roe, CR; Roe, DS; Struys, E; Sweetman, L; Vianey-Saban, C; Yang, BZ1
Christensen, E; Jakobs, C; Largillière, C; ten Brink, HJ; van den Heuvel, CM1

Other Studies

3 other study(ies) available for pristanic acid and Lipid Metabolism, Inborn Error

ArticleYear
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Age of Onset; Biomarkers; DNA Mutational Analysis; Fatty Acids; Genetic Predisposition to Disease; Homozygote; Humans; Leukoencephalopathies; Lipid Metabolism, Inborn Errors; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Nervous System Diseases; Phenotype; Phytanic Acid; Racemases and Epimerases; Remission Induction; Seizures; Treatment Outcome

2010
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
    Molecular genetics and metabolism, 2006, Volume: 87, Issue:1

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carbon-Carbon Double Bond Isomerases; Carnitine; Cells, Cultured; Clinical Enzyme Tests; Diagnosis, Differential; DNA, Complementary; Enoyl-CoA Hydratase; Fatty Acids; Fibroblasts; Genetic Testing; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Mitochondrial Trifunctional Protein; Multienzyme Complexes; Oxidation-Reduction; Racemases and Epimerases

2006
Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening.
    Clinical chemistry, 1993, Volume: 39, Issue:9

    Topics: Fatty Acids; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Microbodies; Neonatal Screening; Phytanic Acid

1993