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D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel <i>HSD17B4</i> Gene Variant. [PDF]
Mol SyndromolErdal AE +3 more
europepmc +1 more source
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease. [PDF]
NPJ Parkinsons DisMalik M +10 more
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Neurological disorders and phytanic acid metabolism
Acta Neurologica Scandinavica, 1988Fifty patients with neurological symptoms and signs resembling those of Refsum's disease were analyzed for phytanic acid in serum. In addition, the phytanic acid oxidase capacity in skin fibroblasts was determined. The patients suffered from retinitis pigmentosa, cerebellar ataxia and/or chronic polyneuropathy of unknown cause.
O H, Skjeldal +2 more
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Phytanic acid metabolism in health and disease
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2011Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) is a branched-chain fatty acid which cannot be beta-oxidized due to the presence of the first methyl group at the 3-position. Instead, phytanic acid undergoes alpha-oxidation to produce pristanic acid (2,6,10,14-tetramethylpentadecanoic acid) plus CO(2).
Ronald J A, Wanders +2 more
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Human metabolism of phytanic acid and pristanic acid
Progress in Lipid Research, 2001Phytanic acid is a methyl-branched fatty acid present in the human diet. Due to its structure, degradation by beta-oxidation is impossible. Instead, phytanic acid is oxidized by alpha-oxidation, yielding pristanic acid. Despite many efforts to elucidate the alpha-oxidation pathway, it remained unknown for more than 30 years.
N M, Verhoeven, C, Jakobs
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Phytanic acid l-menthyl esters
Journal of Chromatography A, 1969Abstract l -Menthyl esters of a naturally occurring (marine) phytanic acid, of an all-synthetic phytanic acid, and of a phytanic acid known to be of 3 d , 7 d , 11 d configuration were compared by GLC. As in the pristanates, the ldd and ddd diastereoisomers were the farthest apart, but in the marine phytanate only two diastereoisomers ...
R.G. Ackman +5 more
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Phytanic Acid, Amacr and Prostate Cancer Risk
Future Oncology, 2006The growing body of knowledge in cancer prevention demonstrates that for many cancers, risk must be defined in terms of both environmental and genetic factors. In prostate cancer, there is increasing evidence linking risk with polymorphisms in the alpha-methylacyl-CoA racemase (AMACR) gene and branched-chain fatty acids derived from specific sources of
Todd, Thornburg +5 more
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1972
Phytanic acid storage disease (Refsum’s disease) has presumably been included in the present Symposium under the rubric “...and Allied Disorders.” In that it is an inherited lipidosis and, like so many of them, affects the nervous system, it is to that extent “allied”. However, the differences are several and important.
Daniel Steinberg, David Hutton
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Phytanic acid storage disease (Refsum’s disease) has presumably been included in the present Symposium under the rubric “...and Allied Disorders.” In that it is an inherited lipidosis and, like so many of them, affects the nervous system, it is to that extent “allied”. However, the differences are several and important.
Daniel Steinberg, David Hutton
openaire +1 more source
METABOLISM OF PHYTANIC ACID IN REFSUM'S DISEASE
The Lancet, 1982Abstract Because patients with Refsum's disease lack an α-hydroxylase they are unable to metabolise phytanic acid, which is present in most foods. However, a study of urinary metabolites in 4 patients with Refsum's disease demonstrated that ω-oxidation can replace the normal oxidation process to some extent.
J D, Billimoria +3 more
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