Sphingolipids (SFs) represent a large class of lipids playing diverse functions in a vast
number of physiological and pathological processes. Sphingomyelin (SM) is the most …

ABSTRACT Niemann–Pick Types A and B (NPA/B) diseases are autosomal recessive
lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase (ASM) …

Breakdown of the inert and constitutive membrane building block sphingomyelin to the
highly active lipid mediator ceramide by extracellularly active acid sphingomyelinase is …

Introduction A founder mutation, p. L302P, in sphingomyelin phosphodiesterase 1, acid
lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage …

Purpose To evaluate accumulation patterns of deposits in retinal layers of type B Niemann–
Pick patients by multimodal imaging. Methods Seven patients with type B Niemann–Pick …

Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are
associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the …

Abstract Background Niemann–Pick disease is caused by reduced level of the lysosomal
enzyme acid sphingomyelinase. Children can survive between 2 and 12 years based on the …

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 …

Background β-thalassemia major and Niemann-Pick diseases have similar clinical and
laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase …

Background: Niemann-Pick diseases are rare inherited lipid storage disorders caused by
mutations in the SMPD1, NPC1, and NPC2 genes. The aim of this study was to assess the …