Browsing by Author "Schuchman, E."
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- ItemEpidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B(2016) Acuna, M.; Martinez, P.; Moraga, C.; He, X.; Moraga, M.; Hunter, B.; Nuernberg, P.; Gutiérrez Ilabaca, Rodrigo Antonio; Gonzalez, M.; Schuchman, E.; Santos Martín, José Luis; Miquel P., Juan Francisco; Mabe, P.; Zanlungo Matsuhiro, Silvana