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

Refine your search

Availability
- Limit to records with available items
Authors
Topics
- Adolescent
- Adult
- Animals
- Child
- Fatty Acids
- Female
- Humans
- Infant
- Male
- Microbodies
- Middle Aged
- Phytanic Acid
- Refsum Disease
- blood
- complications
- diagnosis
- enzymology
- genetics
- metabolism
- pathology
- Show more
- Show less
Languages
- Czech
- Danish
- Dutch
- English
- Finnish
- French
- German
- Croatian
- Hungarian
- Italian
- Japanese
- Norwegian
- Polish
- Portuguese
- Romanian
- Russian
- Slovak
- Spanish
- Undetermined
- Show more
- Show less

	401.	[Peripheral metabolic neuropathies in genetically dependent lysosomal enzyme defects]. [electronic resource] by Pilz, H Goebel, H H Argyrakis, A Hopf, H C Producer: 19780612 In: Verhandlungen der Deutschen Gesellschaft fur Innere Medizin vol. 83 Availability: No items available. Save to lists Add to cart (remove)
	402.	Plasmapheresis. Therapeutic or experimental procedure? [electronic resource] by Dau, P C Producer: 19840621 In: Archives of neurology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	403.	Fatty acid composition of tissues in Refsum's disease (herodopathia atactica polyneuritiformis). Estimation of total phytanic acid accumulation. [electronic resource] by Malmendier, C L Jonniaux, G Voet, W Van Den Bergen, C J Producer: 19750702 In: Biomedicine / [publiee pour l'A.A.I.C.I.G.] vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	404.	Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. [electronic resource] by Pahan, K Khan, M Singh, I Producer: 19970114 In: Journal of lipid research vol. 37 Availability: No items available. Save to lists Add to cart (remove)
	405.	Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. [electronic resource] by Jansen, G A Hogenhout, E M Ferdinandusse, S Waterham, H R Ofman, R Jakobs, C Skjeldal, O H Wanders, R J Producer: 20000623 In: Human molecular genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	406.	The import receptor Pex7p and the PTS2 targeting sequence. [electronic resource] by Lazarow, Paul B Producer: 20070323 In: Biochimica et biophysica acta vol. 1763 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	407.	[Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist (author's transl)]. [electronic resource] by Feldmann, H Producer: 19810723 In: Laryngologie, Rhinologie, Otologie vol. 60 Availability: No items available. Save to lists Add to cart (remove)
	408.	Neurometabolic disease. [electronic resource] by Moser, H W Producer: 19980608 In: Current opinion in neurology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	409.	Phenotype of adult Refsum disease due to a defect in peroxin 7. [electronic resource] by Horn, M A van den Brink, D M Wanders, R J A Duran, M Poll-The, B T Tallaksen, C M E Stokke, O H Moser, H Skjeldal, O H Producer: 20070320 In: Neurology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	410.	Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders. [electronic resource] by Klouwer, Femke C C Huffnagel, Irene C Ferdinandusse, Sacha Waterham, Hans R Wanders, Ronald J A Engelen, Marc Poll-The, Bwee Tien Producer: 20170221 In: Neuropediatrics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	411.	[Hereditary ataxia]. [electronic resource] by Radojicić, B M Producer: 19730524 In: Medicinski glasnik vol. 26 Availability: No items available. Save to lists Add to cart (remove)
	412.	The metabolic basis of the Refsum syndrome. [electronic resource] by Steinberg, D Producer: 19750621 In: Birth defects original article series vol. 7 Availability: No items available. Save to lists Add to cart (remove)
	413.	Formation of a novel arachidonic acid metabolite in peroxisomes. [electronic resource] by Gordon, J A Heller, S K Rhead, W J Watkins, P A Spector, A A Producer: 19950718 In: Prostaglandins, leukotrienes, and essential fatty acids vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	414.	The ichthyosiform dermatoses. [electronic resource] by Esterly, N B Producer: 19690217 In: Pediatrics vol. 42 Availability: No items available. Save to lists Add to cart (remove)
	415.	Morphometry of peroxisomes and immunolocalization of peroxisomal proteins in the liver of patients with generalised peroxisomal disorders. [electronic resource] by Hughes, J L Crane, D I Robertson, E Poulos, A Producer: 19940222 In: Virchows Archiv. A, Pathological anatomy and histopathology vol. 423 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	416.	Peroxisomal disorders: clinical characterization. [electronic resource] by Monnens, L Heymans, H Producer: 19880113 In: Journal of inherited metabolic disease vol. 10 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	417.	Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease. [electronic resource] by Poulos, A Whiting, M J Producer: 19850617 In: Journal of inherited metabolic disease vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	418.	Refsum's syndrome. Heredopathia atactica polyneuritiformis. [electronic resource] by Nevin, N C Cumings, J N McKeown, F Producer: 19670903 In: Brain : a journal of neurology vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	419.	Retinal arteriovenous communication in retinitis pigmentosa with Refsum's disease-like findings. [electronic resource] by Abu el-Asrar, A M Kahtani, E S Tabbara, K F Producer: 19960111 In: Documenta ophthalmologica. Advances in ophthalmology vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	420.	Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. [electronic resource] by Moser, A B Rasmussen, M Naidu, S Watkins, P A McGuinness, M Hajra, A K Chen, G Raymond, G Liu, A Gordon, D Producer: 19950811 In: The Journal of pediatrics vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 655 results.