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	41.	Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. [electronic resource] by Kluger, G Blank, R Paul, K Paschke, E Jansen, E Jakobs, C Wörle, H Plecko, B Producer: 20090511 In: Neuropediatrics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. [electronic resource] by Cvitanovic-Sojat, L Gjergja Juraski, R Sabourdy, F Fensom, A H Fumic, K Paschke, E Levade, T Producer: 20120213 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	[Liver diseases in children and their relatives with homozygous and heterozygous alpha 1-antitrypsin deficiency]. [electronic resource] by Deutsch, J Becker, H Dubs, R Mutz, I Paschke, E Schober, P Maurer, G Fueger, G F Producer: 19870528 In: Wiener klinische Wochenschrift vol. 99 Availability: No items available. Save to lists Add to cart (remove)
	44.	Fucosidosis: genetic and biochemical analysis of eight cases. [electronic resource] by Cragg, H Williamson, M Young, E O'Brien, J Alhadeff, J Fang-Kircher, S Paschke, E Winchester, B Producer: 19970505 In: Journal of medical genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study. [electronic resource] by Tanislav, C Kaps, M Rolfs, A Böttcher, T Lackner, K Paschke, E Mascher, H Laue, M Blaes, F Producer: 20110804 In: European journal of neurology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. [electronic resource] by Groebe, H Krins, M Schmidberger, H von Figura, K Harzer, K Kresse, H Paschke, E Sewell, A Ullrich, K Producer: 19800828 In: American journal of human genetics vol. 32 Availability: No items available. Save to lists Add to cart (remove)
	47.	Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. [electronic resource] by Gatti, R Borrone, C Durand, P De Virgilis, S Sanna, G Cao, A von Figura, K Kresse, H Paschke, E Producer: 19820910 In: European journal of pediatrics vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Severely depressed natural killer cell activity of patients with adrenoleukodystrophy under treatment with Lorenzo's oil. [electronic resource] by Sedlmayr, P Plecko, B Paschke, E Zenz, W Ramschak, H Toplak, H Wascher, T C Wilders-Truschnig, M Stöckler, S Producer: 19950828 In: Journal of inherited metabolic disease vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria. [electronic resource] by Gucev, Z S Tasic, V Sinigerska, I Kremensky, I Tincheva, R Pop-Jordanova, N Danilovski, D Hofer, D Paschke, E Producer: 20160401 In: Prilozi vol. 32 Availability: No items available. Save to lists Add to cart (remove)
	50.	Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. [electronic resource] by Coppa, G V Giorgi, P L Felici, L Gabrielli, O Donti, E Bernasconi, S Kresse, H Paschke, E Mastropaolo, C Producer: 19831008 In: European journal of pediatrics vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. [electronic resource] by Hofer, D Paul, K Fantur, K Beck, M Roubergue, A Vellodi, A Poorthuis, B J Michelakakis, H Plecko, B Paschke, E Producer: 20110202 In: Clinical genetics vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B. [electronic resource] by Paschke, E Milos, I Kreimer-Erlacher, H Hoefler, G Beck, M Hoeltzenbein, M Kleijer, W Levade, T Michelakakis, H Radeva, B Producer: 20011018 In: Human genetics vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. [electronic resource] by Tomatsu, S Nishioka, T Montaño, A M Gutierrez, M A Pena, O S Orii, K O Sly, W S Yamaguchi, S Orii, T Paschke, E Kircher, S G Noguchi, A Producer: 20041221 In: Journal of medical genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. [electronic resource] by Tomatsu, S Gutierrez, M A Ishimaru, T Peña, O M Montaño, A M Maeda, H Velez-Castrillon, S Nishioka, T Fachel, A A Cooper, A Thornley, M Wraith, E Barrera, L A Laybauer, L S Giugliani, R Schwartz, I V Frenking, G Schulze Beck, M Kircher, S G Paschke, E Yamaguchi, S Ullrich, K Isogai, K Suzuki, Y Orii, T Noguchi, A Producer: 20060130 In: Journal of inherited metabolic disease vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. [electronic resource] by Tomatsu, S Okamura, K Maeda, H Taketani, T Castrillon, S V Gutierrez, M A Nishioka, T Fachel, A A Orii, K O Grubb, J H Cooper, A Thornley, M Wraith, E Barrera, L A Laybauer, L S Giugliani, R Schwartz, I V Frenking, G Schulze Beck, M Kircher, S G Paschke, E Yamaguchi, S Ullrich, K Haskins, M Isogai, K Suzuki, Y Orii, T Kondo, N Creer, M Okuyama, T Tanaka, A Noguchi, A Producer: 20050804 In: Journal of inherited metabolic disease vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)