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 ... All 2 versions
[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 ... Related articles - View as HTML - All 7 versions
[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 RefsumDisease Eleanor J. Baldwin Research dietician ...RefsumDisease Clinic, Chelsea & Westminster Hospital, London SW10 9NH UK Key words: Refsumdisease; phytanic acid; diet; peroxisome ... Related articles
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 ... Cached
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 ... Related articles - All 2 versions
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