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

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	481.	Hereditary chronic polyneuropathy. Electrophysiological and pathological studies in an affected family. [electronic resource] by Bradley, W G Aguayo, A Producer: 19691103 In: Journal of the neurological sciences vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	482.	The optimized use of gas chromatography-mass spectrometry and high performance liquid chromatography to analyse the serum bile acids of patients with metabolic cholestasis and peroxisomal disorders. [electronic resource] by Courillon, F Gerhardt, M F Myara, A Rocchiccioli, F Trivin, F Producer: 19980403 In: European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	483.	Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients. [electronic resource] by Roscher, A A Hoefler, S Hoefler, G Paschke, E Paltauf, F Moser, A Moser, H Producer: 19891006 In: Pediatric research vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	484.	Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. [electronic resource] by Poll-The, B T Saudubray, J M Ogier, H Schutgens, R B Wanders, R J Schrakamp, G van den Bosch, H Trijbels, J M Poulos, A Moser, H W Producer: 19861010 In: Journal of inherited metabolic disease vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	485.	[Skin manifestations in nervous system diseases. New dermatological data of neurological interest]. [electronic resource] by Schnyder, U W Producer: 19780329 In: Die Medizinische Welt vol. 29 Availability: No items available. Save to lists Add to cart (remove)
	486.	The ichthyoses--pathogenesis and prenatal diagnosis: a review of recent advances. [electronic resource] by Williams, M L Producer: 19841211 In: Pediatric dermatology vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	487.	[A degenerative syndrome resembling Refsum's syndrome]. [electronic resource] by Bryniarska, D Goldsztajn, M Producer: 19730504 In: Neurologia i neurochirurgia polska vol. 6 Availability: No items available. Save to lists Add to cart (remove)
	488.	Use of cell culture techniques in diagnosis and studies of inherited disease. [electronic resource] by Nitowsky, H M Producer: 19730103 In: Seminars in hematology vol. 9 Availability: No items available. Save to lists Add to cart (remove)
	489.	Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. [electronic resource] by Jansen, G A Ferdinandusse, S Hogenhout, E M Verhoeven, N M Jakobs, C Wanders, R J Producer: 20000411 In: Advances in experimental medicine and biology vol. 466 Availability: No items available. Save to lists Add to cart (remove)
	490.	An improved method for quantification of very long chain fatty acids in plasma. [electronic resource] by Vallance, H Applegarth, D Producer: 19941027 In: Clinical biochemistry vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	491.	3,7,11,15-tetramethylhexadecanoic acid: its occurrence in the tissues of humans afflicted with Refsum's syndrome. [electronic resource] by Hansen, R P Producer: 19660629 In: Biochimica et biophysica acta vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	492.	Fluorescein angiography of hereditary retinal degenerations. [electronic resource] by Geltzer, A I Berson, E L Producer: 19690730 In: Archives of ophthalmology (Chicago, Ill. : 1960) vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	493.	[Refsum's disease: evolution 35 years after diagnosis]. [electronic resource] by Marcaud, V Defontaines, B Jung, P Degos, C F Producer: 20020809 In: Revue neurologique vol. 158 Availability: No items available. Save to lists Add to cart (remove)
	494.	Ataxia and other data reviewed in Charcot-Marie-Tooth and Refsum's disease. [electronic resource] by Salisachs, P Producer: 19830415 In: Journal of neurology, neurosurgery, and psychiatry vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	495.	Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes. [electronic resource] by Jansen, G A van den Brink, D M Ofman, R Draghici, O Dacremont, G Wanders, R J Producer: 20010607 In: Biochemical and biophysical research communications vol. 283 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	496.	REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER. [electronic resource] by KOLODNY, E H HASS, W K LANE, B DRUCKER, W D Producer: 19961201 In: Archives of neurology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	497.	Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa. [electronic resource] by Finsterer, Josef Regelsberger, Günther Voigtländer, Till Producer: 20080428 In: Journal of the neurological sciences vol. 266 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	498.	Cochlear Implantation in Siblings With Refsum's Disease. [electronic resource] by Stähr, Kerstin Kuechler, Alma Gencik, Martin Arnolds, Judith Dendy, Meaghan Lang, Stephan Arweiler-Harbeck, Diana Producer: 20170821 In: The Annals of otology, rhinology, and laryngology vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	499.	Absorption of chlorophyll phytol in normal man and in patients with Refsum's disease. [electronic resource] by Baxter, J H Producer: 19690204 In: Journal of lipid research vol. 9 Availability: No items available. Save to lists Add to cart (remove)
	500.	Effects of dietary phytol and phytanic acid in animals. [electronic resource] by Steinberg, D Avigan, J Mize, C E Baxter, J H Cammermeyer, J Fales, H M Highet, P F Producer: 19670907 In: Journal of lipid research vol. 7 Availability: No items available. Save to lists Add to cart (remove)

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