Browsing by Author "c83dbe8a-a85e-4bb9-95d0-9be33bf701bb"
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Acuña, Mariana; Castro Fernández, Víctor; Latorre Mora, Mauricio; Castro, Juan; Schuchman, Edward H.; Guixé Leguía, Victoria Cristina; González Canales, Mauricio; Zanlungo, Silvana (Elsevier, 2016)Niemann-Pick disease (NPD) type A and B are recessive hereditary disorders caused by deficiency in acid sphingomyelinase (ASM). The p.A1a359Asp mutation has been described in several patients but its functional and structural ...