Browsing by Author "Mabe, Paulina"

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    • Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing ... 
      Acuna, Mariana; Martinez, Pablo; Moraga, Carol; He, Xingxuan; Moraga Vergara, Mauricio; Hunter, Bessie; Nuernberg, Peter; Gutierrez, Rodrigo; González Canales, Mauricio; Schuchman, Edward; Luis Santos, Jose; Francisco Miquel, Juan; Mabe, Paulina; Zanlungo, Silvana (NATURE PUBLISHING GROUP, 2016)
      Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase ...