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

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	521.	Loudness recruitment and its measurement with special reference to the loudness discomfort level test and its value in diagnosis. [electronic resource] by Dix, M R Producer: 19690130 In: The Annals of otology, rhinology, and laryngology vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	522.	Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy. [electronic resource] by Oostendorp, Marlies Engelke, Udo F H Willemsen, Michèl A A P Wevers, Ron A Producer: 20060725 In: Clinical chemistry vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	523.	MRI as diagnostic tool in early-onset peroxisomal disorders. [electronic resource] by van der Knaap, M S Wassmer, E Wolf, N I Ferreira, P Topçu, M Wanders, R J A Waterham, H R Ferdinandusse, S Producer: 20120720 In: Neurology vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	524.	Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group. [electronic resource] by Wiemer, E A Out, M Schelen, A Wanders, R J Schutgens, R B Van den Bosch, H Tager, J M Producer: 19911206 In: Biochimica et biophysica acta vol. 1097 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	525.	[Polyneuropathies in inborn metabolic disorders: in diabetes mellitus, in Refsum's disease]. [electronic resource] by Bischoff, A Producer: 19780612 In: Verhandlungen der Deutschen Gesellschaft fur Innere Medizin vol. 83 Availability: No items available. Save to lists Add to cart (remove)
	526.	A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom. [electronic resource] by Piscosquito, Giuseppe Magri, Stefania Saveri, Paola Milani, Micaela Ciano, Claudia Farina, Laura Taroni, Franco Pareyson, Davide Producer: 20180220 In: Journal of the peripheral nervous system : JPNS vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	527.	Refsum's disease. Eye manifestations in a patient treated with low phytol low phytanic acid diet. [electronic resource] by Hansen, E Bachen, N I Flage, T Producer: 19800327 In: Acta ophthalmologica vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	528.	Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts. [electronic resource] by Lawson, A M Madigan, M J Shortland, D Clayton, P T Producer: 19870304 In: Clinica chimica acta; international journal of clinical chemistry vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	529.	[Role of dysgenetic factors in primary non-obstructive myocardiopathies in adolescents or young adults]. [electronic resource] by Froment, R Loire, R Boissel, J P Producer: 19720912 In: Archives des maladies du coeur et des vaisseaux vol. 65 Availability: No items available. Save to lists Add to cart (remove)
	530.	The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes. [electronic resource] by Kahlert, Stefan Schönfeld, Peter Reiser, Georg Producer: 20050516 In: Neurobiology of disease vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	531.	Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. [electronic resource] by Wanders, R J Schutgens, R B Schrakamp, G van den Bosch, H Tager, J M Schram, A W Hashimoto, T Poll-Thé, B T Saudubrau, J M Producer: 19861209 In: European journal of pediatrics vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	532.	Hydroxy fatty acid metabolism in brain. [electronic resource] by Bowen, D M Radin, N S Producer: 19690422 In: Advances in lipid research vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	533.	[Peripheral nerve involvement in congenital metabolic disorders (author's transl)]. [electronic resource] by Nonaka, I Producer: 19791218 In: No to shinkei = Brain and nerve vol. 31 Availability: No items available. Save to lists Add to cart (remove)
	534.	REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE. [electronic resource] by RICHTERICH, R VANMECHELEN, P ROSSI, E Producer: 19961201 In: The American journal of medicine vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	535.	Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats. [electronic resource] by Leipnitz, Guilhian Amaral, Alexandre U Zanatta, Angela Seminotti, Bianca Fernandes, Carolina G Knebel, Lisiane A Vargas, Carmen R Wajner, Moacir Producer: 20100910 In: Life sciences vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	536.	Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. [electronic resource] by Poll-The, B T Saudubray, J M Ogier, H A Odièvre, M Scotto, J M Monnens, L Govaerts, L C Roels, F Cornelis, A Schutgens, R B Producer: 19880107 In: European journal of pediatrics vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	537.	[Phenotype--genotype relationships in peroxisome biogenesis disorders]. [electronic resource] by Shimozawa, N Producer: 20010726 In: No to shinkei = Brain and nerve vol. 53 Availability: No items available. Save to lists Add to cart (remove)
	538.	Branching and hydrophobic bonding. Partition equilibria and serum albumin binding of palmitic and phytanic acids. [electronic resource] by Arvidsson, E O Green, F A Laurell, S Producer: 19711202 In: The Journal of biological chemistry vol. 246 Availability: No items available. Save to lists Add to cart (remove)
	539.	Heredopathia atactica polyneuritiformis (Refsum's disease). Experiences of dietary treatment and plasmapheresis. [electronic resource] by Lundberg, A Lilja, L G Lundberg, P O Try, K Producer: 19730118 In: European neurology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	540.	[Differential diagnosis of ataxia in childhood]. [electronic resource] by Hirt, H R Producer: 19690125 In: Zeitschrift fur Kinderheilkunde vol. 102 Availability: No items available. Save to lists Add to cart (remove)

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