Article ISI
Eur J Human Gen  (2015)

Epidemiological, Clinical and Biochemical Characterization of the A359D SMPD1 Mutation Causing Niemann-Pick Disease Type B

Acuña M; Martinez P; Moraga C; Hunter B; Nuernberg P; Gutiérrez RA; González M; Schuchman E; Santos JL; Miquel JF; Mabel P; Zanlungo S