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Sanofi Genzyme

WORLDSymposium 2022 | Feb 7, 2022 - Feb 11, 2022

ASMD

Acid Sphingomyelinase Deficiency, ASMD, historically known as Niemann-Pick disease (NPD) types A, A/B and B, is a rare, autosomal recessive disease caused by a deficiency of acid sphingomyelinase resulting from pathogenic variants in the SMPD1 gene. Sphingomyelin accumulates in cells mainly of the mononuclear phagocytic system and organs most affected include the liver, spleen, lungs, nervous system, and skeletal system.

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