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	981.	Clinical application of intrauterine bone marrow transplantation for treatment of genetic diseases--feasibility studies. [electronic resource] by Slavin, S Naparstek, E Ziegler, M Lewin, A Producer: 19920918 In: Bone marrow transplantation vol. 9 Suppl 1 Availability: No items available. Save to lists Add to cart (remove)
	982.	Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings. [electronic resource] by Manowitz, P Kling, A Kohn, H Producer: 19780925 In: The Journal of nervous and mental disease vol. 166 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	983.	Cholesterol ester metabolizing enzymes in human brain: properties, subcellular distribution and relative levels in various diseased conditions. [electronic resource] by Johnson, R C Shah, S N Producer: 19781220 In: Journal of neurochemistry vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	984.	Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency. [electronic resource] by van der Hagen, C B Borresen, A L Molne, K Oftedal, G Bjoro, K Berg, K Producer: 19740222 In: Clinical genetics vol. 4 Availability: No items available. Save to lists Add to cart (remove)
	985.	Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy. [electronic resource] by von Bülow, Rixa Schmidt, Bernhard Dierks, Thomas Schwabauer, Nelli Schilling, Klaus Weber, Ekkehard Usón, Isabel von Figura, Kurt Producer: 20020405 In: The Journal of biological chemistry vol. 277 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	986.	Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome. [electronic resource] by Zafeiriou, D I Koletzko, B Mueller-Felber, W Paetzke, I Kueffer, G Jensen, M Producer: 19950831 In: Brain & development vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	987.	First Record Mutations in the Genes [electronic resource] by Froukh, Tawfiq Producer: 20190613 In: BioMed research international vol. 2019 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	988.	[Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses]. [electronic resource] by Dreyfus, J C Poenaru, L Producer: 19760102 In: Archives francaises de pediatrie vol. 32 Availability: No items available. Save to lists Add to cart (remove)
	989.	An appraisal of human trials in enzyme replacement therapy of genetic diseases. [electronic resource] by Tager, J M Hamers, M N Schram, A W Van den Bergh, F A Rietra, P J Loonen, C Koster, J F Slee, R Producer: 19810317 In: Birth defects original article series vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	990.	Genetic errors and enzyme replacement strategies. [electronic resource] by Brady, R O Producer: 19830317 In: Research publications - Association for Research in Nervous and Mental Disease vol. 60 Availability: No items available. Save to lists Add to cart (remove)
	991.	LIPID CLASS COMPOSITION OF NORMAL HUMAN BRAIN AND VARIATIONS IN METACHROMATIC LEUCODYSTROPHY, TAY-SACHS, NIEMANN-PICK, CHRONIC GAUCHER'S AND ALZHEIMER'S DISEASES. [electronic resource] by ROUSER, G GALLI, C KRITCHEVSKY, G Producer: 19961201 In: Journal of the American Oil Chemists' Society vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	992.	Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). [electronic resource] by Dorboz, Imen Eymard-Pierre, Eleonore Kefi, Rym Abdelhak, Sonia Miladi, Najoua Boespflug-Tanguy, Odile Producer: 20100212 In: Journal of the neurological sciences vol. 287 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	993.	Clinical epidemiologic characterization of orthopaedic and neurological manifestations in children with leukodystrophies. [electronic resource] by Holmes, Larry Cornes, Maria Julia Foldi, Beatrix Miller, Freeman Dabney, Kirk Producer: 20111201 In: Journal of pediatric orthopedics vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	994.	Tomochemistry of the brain. [electronic resource] by Dubal, L Wiggli, U Producer: 19780929 In: Journal of computer assisted tomography vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	995.	Structural manifestations of leukodystrophies. [electronic resource] by Seitelberger, F Producer: 19860807 In: Neuropediatrics vol. 15 Suppl Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	996.	Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy. [electronic resource] by Poenaru, L Kaplan, L Dumez, J Dreyfus, J C Producer: 19841218 In: Pediatric research vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	997.	[Inborn errors of metabolism with preferred localization in the central nervous system]. [electronic resource] by Peiffer, J Producer: 19830811 In: Verhandlungen der Deutschen Gesellschaft fur Pathologie vol. 66 Availability: No items available. Save to lists Add to cart (remove)
	998.	Human urinary sulfatides in patients with sulfatidosis (metachromatic leukodystrophy). [electronic resource] by Philippart, M Sarlieve, L Meurant, C Mechler, L Producer: 19740529 In: Journal of lipid research vol. 12 Availability: No items available. Save to lists Add to cart (remove)
	999.	Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy. [electronic resource] by Coulter-Mackie, M B Gagnier, L Producer: 19990630 In: Human mutation vol. Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1000.	The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A. [electronic resource] by Schestag, Frank Yaghootfam, Afshin Habetha, Matthias Poeppel, Peter Dietz, Frank Klein, Roger A Zlotogora, Joel Gieselmann, Volkmar Producer: 20021210 In: The Biochemical journal vol. 367 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 1243 results.