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Journal Article
Acuna, Mariana, Martinez, Pablo, Moraga, Carol, He, Xingxuan, Moraga, Mauricio, Hunter, Bessie, Nuernberg, Peter, Gutierrez, Rodrigo A., Gonzalez, Mauricio, Schuchman, Edward H., Luis Santos, Jose, Francisco Miquel, Juan, Mabe, Paulina and Zanlungo, Silvana (2016). Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. Eur. J. Hum. Genet., 24 (2). S. 208 - 214. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438