Articulo
Epidemiological, Clinical And Biochemical Characterization Of The P.(Ala359Asp) Smpd1 Variant Causing Niemann-Pick Disease Type B
Fecha
2016Registro en:
1150186
WOS:000370469400009
Institución
Resumen
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 (ASM) activity. While numerous varia