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Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U. Sturm M, et al. PLoS One. 2012;7(9):e45110. doi: 10.1371/journal.pone.0045110. Epub 2012 Sep 17. PLoS One. 2012. PMID: 23028790 Free PMC article.
This demonstrates a correlation between the octanoyl-CoA oxidation rate in lymphocytes and the clinical outcome. With newborn screening, the natural course of disease is difficult to assess. The octanoyl-CoA oxidation rate, therefore, allows a risk assessment at birth and …
This demonstrates a correlation between the octanoyl-CoA oxidation rate in lymphocytes and the clinical outcome. With newborn screening, the …
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.
Ho JK, Moser H, Kishimoto Y, Hamilton JA. Ho JK, et al. J Clin Invest. 1995 Sep;96(3):1455-63. doi: 10.1172/JCI118182. J Clin Invest. 1995. PMID: 7657817 Free PMC article.
Calorimetric experiments show strong perturbations of acyl chains of phospholipids by HA. We predict that disruptive effects of VLCFA on cell membrane structure and function may explain the neurological manifestations of ALD patients. ...
Calorimetric experiments show strong perturbations of acyl chains of phospholipids by HA. We predict that disruptive effects of VLCFA …
Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R. Zolotov D, et al. J Clin Apher. 2012;27(2):99-105. doi: 10.1002/jca.21200. Epub 2012 Jan 20. J Clin Apher. 2012. PMID: 22267052
Dietary restriction of phytanic acid in some cases is not sufficient to prevent acute attacks and stabilize the progressive course. Phytanic acid bound to large low density lipoproteins (LDL) and very low density lipoproteins (VLDL) molecules offers the possibility of extr …
Dietary restriction of phytanic acid in some cases is not sufficient to prevent acute attacks and stabilize the progressive course. P …