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Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ …

N Kruska… - Neurobiology of Disease, 2011 - Elsevier
The accumulation of the two branched-chain fatty acids phytanic acid and pristanic acid is known
to play an important role in several diseases with peroxisomal impairment, like Refsum
disease, Zellweger syndrome and α-methylacyl-CoA racemase deficiency. Recent ...
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[PDF] Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder

[PDF] from hindawi.comNJ Perera, B Lewis, H Tran, M Fietz… - Journal of …, 2011 - downloads.hindawi.com
1 Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Sydney, Camperdown, NSW
2050, Australia 2 Department of Medicine, University of Sydney, NSW 2006, Australia 3 Department
of Biochemistry, John Hunter Hospital, Newcastle, NSW 2305, Australia 4 National ...
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The effectiveness of dietary therapy over 10 years in the treatment of Adult Refsum Disease

[PDF] from peerproject.euAS Wierzbicki, EJ Baldwin, FB Gibberd, C Harley… - 2011 - repository.peerproject.eu
1 The effectiveness of long-term dietary therapy in the treatment of Adult Refsum Disease Eleanor
J. Baldwin Research dietician ... Refsum Disease Clinic, Chelsea & Westminster Hospital, London
SW10 9NH UK Key words: Refsum disease; phytanic acid; diet; peroxisome ...
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The Role of Advanced Neuroimaging in Infantile Refsum Disease

G Haliloglu, K Karli Oguz, M Kilic… - 9th EPNS …, 2011 - epns2011.com
Results: Bilateral and symmetrical involvement of peritrigonal white matter and centrum
semiovale, thalami, the corpus callosum along with corticospinal tracts, as assessed by increased
T2 signal, was highly suggestive of a peroxisomal disorder. Facilitated diffusion shown by ...
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Infantile Refsum Disease With Enamel Defects: A Case Report

D Tran, W Greenhill… - Pediatric Dentistry, 2011 - ingentaconnect.com
Infantile Refsum disease (IRD) is inherited in an autosomal recessive manner, and the incidence
is unclear. An estimate of 1 in 25,000 and 1 in 50,000 is reported for the total of all leukodystrophy
disorders in which there is overlap of IRD with other diseases. Leukodystrophy disorders ...
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