Novel Mutations in the SMPD1 Gene in Jordanian Children with Acid Sphingomyelinase Deficiency (Niemann-Pick Types A and B).
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DOI: 10.1016/j.gene.2020.144683
Abstract: Acid sphingomyelinase (ASM) deficiency (ASMD) is a spectrum that includes Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). ASMD is characterized by intracellular accumulation of unesterified cholesterol and gangliosides within the endosomal-lysosomal… read more here.
Keywords: mutations smpd1; smpd1 gene; gene; acid sphingomyelinase ... See more keywords