Schmitt K et al. |
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?]. |
1993 |
Wien. Klin. Wochenschr. |
pmid:7687405
|
Straube R et al. |
Membrane differential filtration is safe and effective for the long-term treatment of Refsum syndrome--an update of treatment modalities and pathophysiological cognition. |
2003 |
Transfus. Apher. Sci. |
pmid:12877898
|
Mackie JT et al. |
Phytol-induced hepatotoxicity in mice. |
2009 |
Toxicol Pathol |
pmid:19188468
|
Kase BF and Björkhem I |
Studies on the degradation of [U-3H]-phytanic acid and [U-3H]-pristanic acid in cultured fibroblasts from children with peroxisomal disorders. |
1996 |
Scand. J. Clin. Lab. Invest. |
pmid:8761525
|
Verhoeven NM and Jakobs C |
Human metabolism of phytanic acid and pristanic acid. |
2001 |
Prog. Lipid Res. |
pmid:11591435
|
Wanders RJ et al. |
Activation and oxidation of pristanic acid in rat liver: identification of a distinct, clofibrate non-inducible pristanoyl-CoA oxidase. |
1992 |
Prog. Clin. Biol. Res. |
pmid:1438370
|
Wanders RJ et al. |
Molecular analysis of disorders of peroxisomal beta-oxidation. |
1992 |
Prog. Clin. Biol. Res. |
pmid:1438395
|
Villarroya F et al. |
PPARs in the Control of Uncoupling Proteins Gene Expression. |
2007 |
PPAR Res |
pmid:17389766
|
Astarita G et al. |
Deficient liver biosynthesis of docosahexaenoic acid correlates with cognitive impairment in Alzheimer's disease. |
2010 |
PLoS ONE |
pmid:20838618
|
ten Brink HJ et al. |
In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata. |
1992 |
Pediatr. Res. |
pmid:1282700
|
McMillan HJ et al. |
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. |
2012 |
Orphanet J Rare Dis |
pmid:23181892
|
Sevin C et al. |
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. |
2011 |
Orphanet J Rare Dis |
pmid:21392394
|
Klein CJ et al. |
Plasma fatty acids in premature infants with hyperbilirubinemia: before-and-after nutrition support with fish oil emulsion. |
2013 |
Nutr Clin Pract |
pmid:23319354
|
Pyper SR et al. |
PPARalpha: energy combustion, hypolipidemia, inflammation and cancer. |
2010 |
Nucl Recept Signal |
pmid:20414453
|
Gootjes J et al. |
Biochemical markers predicting survival in peroxisome biogenesis disorders. |
2002 |
Neurology |
pmid:12473763
|
Clarke CE et al. |
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. |
2004 |
Neurology |
pmid:15249642
|
Kapina V et al. |
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency. |
2010 |
Neurology |
pmid:20921516
|
Busanello EN et al. |
Neurochemical evidence that pristanic acid impairs energy production and inhibits synaptic Na(+), K(+)-ATPase activity in brain of young rats. |
2011 |
Neurochem. Res. |
pmid:21445584
|
Kruska N and Reiser G |
Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40. |
2011 |
Neurobiol. Dis. |
pmid:21570468
|
Rönicke S et al. |
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes. |
2009 |
Neurobiol. Dis. |
pmid:19703563
|
van den Brink DM et al. |
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. |
2004 |
Mol. Genet. Metab. |
pmid:15110319
|
Peduto A et al. |
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. |
2004 |
Mol. Genet. Metab. |
pmid:15234336
|
Roe DS et al. |
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. |
2006 |
Mol. Genet. Metab. |
pmid:16297647
|
Werner LB et al. |
Effect of dairy fat on plasma phytanic acid in healthy volunteers - a randomized controlled study. |
2011 |
Lipids Health Dis |
pmid:21663648
|
Terre'Blanche G et al. |
Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report. |
2011 |
Lipids Health Dis |
pmid:21871076
|
Busanello EN et al. |
Disruption of oxidative phosphorylation and synaptic Na(+), K(+)-ATPase activity by pristanic acid in cerebellum of young rats. |
2014 |
Life Sci. |
pmid:24211616
|
Mamedov IS et al. |
[The diagnostic of peroxisomic diseases in children]. |
2012 |
Klin. Lab. Diagn. |
pmid:22712285
|
Busanello EN et al. |
Experimental evidence that pristanic acid disrupts mitochondrial homeostasis in brain of young rats. |
2012 |
J. Neurosci. Res. |
pmid:22183871
|
McLean BN et al. |
A new defect of peroxisomal function involving pristanic acid: a case report. |
2002 |
J. Neurol. Neurosurg. Psychiatr. |
pmid:11861706
|
Thompson SA et al. |
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. |
2008 |
J. Neurol. Neurosurg. Psychiatr. |
pmid:18032455
|
Ferdinandusse S et al. |
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. |
2001 |
J. Lipid Res. |
pmid:11160375
|
Atshaves BP et al. |
Sexually dimorphic metabolism of branched-chain lipids in C57BL/6J mice. |
2004 |
J. Lipid Res. |
pmid:14993239
|
Gloerich J et al. |
A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARalpha-dependent and -independent pathways. |
2005 |
J. Lipid Res. |
pmid:15654129
|
Ferdinandusse S et al. |
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. |
2002 |
J. Lipid Res. |
pmid:11893780
|
ten Brink HJ et al. |
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. |
1992 |
J. Lipid Res. |
pmid:1372637
|
Gloerich J et al. |
Metabolism of phytol to phytanic acid in the mouse, and the role of PPARalpha in its regulation. |
2007 |
J. Lipid Res. |
pmid:17015885
|
Singh I et al. |
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. |
1993 |
J. Lipid Res. |
pmid:7504046
|
Verhoeven NM et al. |
Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. |
1998 |
J. Lipid Res. |
pmid:9469587
|
Singh H et al. |
Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts. |
1992 |
J. Lipid Res. |
pmid:1464743
|
ten Brink HJ et al. |
Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders. |
1992 |
J. Lipid Res. |
pmid:1385561
|
Zomer AW et al. |
Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha. |
2000 |
J. Lipid Res. |
pmid:11060349
|
Verhoeven NM et al. |
Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver. |
1997 |
J. Lipid Res. |
pmid:9374128
|
Ferdinandusse S et al. |
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase. |
2000 |
J. Lipid Res. |
pmid:11060359
|
Verhoeven NM et al. |
Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry. |
1999 |
J. Lipid Res. |
pmid:9925655
|
Van Veldhoven PP |
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. |
2010 |
J. Lipid Res. |
pmid:20558530
|
Al-Dirbashi OY et al. |
Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. |
2008 |
J. Lipid Res. |
pmid:18441019
|
Wanders RJ et al. |
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. |
2010 |
J. Inherit. Metab. Dis. |
pmid:20490924
|
Jakobs BS and Wanders RJ |
Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency. |
1996 |
J. Inherit. Metab. Dis. |
pmid:8739961
|
Clayton PT et al. |
Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation. |
1996 |
J. Inherit. Metab. Dis. |
pmid:8982949
|
Smith EH et al. |
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. |
2010 |
J. Inherit. Metab. Dis. |
pmid:20821052
|