Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B

Mariana Acuña, Pablo Martínez, Carol Moraga, Xingxuan He, Mauricio Moraga, Bessie Hunter, Peter Nuernberg, Rodrigo A. Gutiérrez, Mauricio González, Edward H. Schuchman, José Luis Santos, Juan Francisco Miquel, Paulina Mabe, Silvana Zanlungo

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22 Scopus citations

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