Results of search for 'su:"Refsum Disease"' › مکتبة رقمیه للعلوم الطبيه catalog

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	581.	Phytol metabolites are circulating dietary factors that activate the nuclear receptor RXR. [electronic resource] by Kitareewan, S Burka, L T Tomer, K B Parker, C E Deterding, L J Stevens, R D Forman, B M Mais, D E Heyman, R A McMorris, T Weinberger, C Producer: 19970523 In: Molecular biology of the cell vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	582.	Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. [electronic resource] by Lee, Z H Kim, H Ahn, K Y Seo, K H Kim, J K Bae, C S Kim, K K Producer: 20000421 In: Brain research. Molecular brain research vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	583.	Cardiac Characteristics of Transgenic Mice Overexpressing Refsum Disease Gene-Associated Protein within the Heart. [electronic resource] by Koh, J T Choi, H H Ahn, K Y Kim, J U Kim, J H Chun, J Y Baik, Y H Kim, K K Producer: 20011011 In: Biochemical and biophysical research communications vol. 286 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	584.	Ratios for very-long-chain fatty acids in plasma of subjects with peroxisomal disorders, as determined by HPLC and validated by gas chromatography-mass spectrometry. [electronic resource] by Hall, N A Lynes, G W Hjelm, N M Producer: 19880725 In: Clinical chemistry vol. 34 Availability: No items available. Save to lists Add to cart (remove)
	585.	Medical-dental findings and management of a child with infantile Refsum disease: a case report. [electronic resource] by Acharya, Bhavini S Ritwik, Priyanshi Velasquez, Gisela M Fenton, Sanford J Producer: 20121024 In: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	586.	[Procedure for the diagnosis of sphingolipidoses or allied diseases in adult patients with neurological or psychiatric symptoms (author's transl)]. [electronic resource] by Pilz, H Heipertz, R Seidel, D Producer: 19800815 In: Der Nervenarzt vol. 50 Availability: No items available. Save to lists Add to cart (remove)
	587.	Sudden hearing loss: a clinical survey. [electronic resource] by Feldmann, H Producer: 19820313 In: Advances in oto-rhino-laryngology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	588.	The chemistry and biochemistry of phytanic, pristanic and related acids. [electronic resource] by Lough, A K Producer: 19741118 In: Progress in the chemistry of fats and other lipids vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	589.	The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family. [electronic resource] by Christensen, E Brandt, N J Rosenberg, T Bömers, K Jakobs, C Producer: 19950130 In: Journal of inherited metabolic disease vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	590.	The skin in genetically-controlled metabolic disorders. [electronic resource] by Newbold, P C Producer: 19731116 In: Journal of medical genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	591.	Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. [electronic resource] by Jansen, G A Ofman, R Ferdinandusse, S Ijlst, L Muijsers, A O Skjeldal, O H Stokke, O Jakobs, C Besley, G T Wraith, J E Wanders, R J Producer: 19971114 In: Nature genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	592.	Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. [electronic resource] by Young, S P Johnson, A W Muller, D P Producer: 20020107 In: Clinical science (London, England : 1979) vol. 101 Availability: No items available. Save to lists Add to cart (remove)
	593.	Hereditary deafness syndromes with onset in adult life. [electronic resource] by Konigsmark, B W Producer: 19740502 In: Audiology : official organ of the International Society of Audiology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	594.	[Skin and cardiovascular system]. [electronic resource] by Denk, R Producer: 19741017 In: Der Internist vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	595.	Phytoenzyme systems as models for an understanding of general metabolic pathways. [electronic resource] by Stumpf, P K Producer: 19760220 In: The Journal of experimental zoology vol. 194 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	596.	Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia. [electronic resource] by Gabrikova, Dana Mistrik, Martin Bernasovska, Jarmila Bozikova, Alexandra Behulova, Regina Tothova, Iveta Macekova, Sona Producer: 20140709 In: Journal of applied genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	597.	Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. [electronic resource] by Okamoto, Yuji Goksungur, Meryem Tuba Pehlivan, Davut Beck, Christine R Gonzaga-Jauregui, Claudia Muzny, Donna M Atik, Mehmed M Carvalho, Claudia M B Matur, Zeliha Bayraktar, Serife Boone, Philip M Akyuz, Kaya Gibbs, Richard A Battaloglu, Esra Parman, Yesim Lupski, James R Producer: 20150110 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	598.	Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. [electronic resource] by Aubourg, P Kremser, K Roland, M O Rocchiccioli, F Singh, I Producer: 19940418 In: Pediatric research vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	599.	Identification of PEX7 as the second gene involved in Refsum disease. [electronic resource] by van den Brink, Daan M Brites, Pedro Haasjes, Janet Wierzbicki, Anthony S Mitchell, John Lambert-Hamill, Michelle de Belleroche, Jacqueline Jansen, Gerbert A Waterham, Hans R Wanders, Ronald J A Producer: 20030318 In: American journal of human genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	600.	Phytanic acid alpha-oxidation, new insights into an old problem: a review. [electronic resource] by Wanders, Ronald J A Jansen, Gerbert A Lloyd, Matthew D Producer: 20030722 In: Biochimica et biophysica acta vol. 1631 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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