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	1.	Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. [electronic resource] by Pittis, M G Ricci, V Guerci, V I Marçais, C Ciana, G Dardis, A Gerin, F Stroppiano, M Vanier, M T Filocamo, M Bembi, B Producer: 20041025 In: Human mutation vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Substrate reduction therapy in the infantile form of Tay-Sachs disease. [electronic resource] by Bembi, B Marchetti, F Guerci, V I Ciana, G Addobbati, R Grasso, D Barone, R Cariati, R Fernandez-Guillen, L Butters, T Pittis, M G Producer: 20060314 In: Neurology vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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