Abstract The eponym Niemann-Pick disease (NPD) refers to a group of patients who present
with varying degrees of lipid storage and foam cell infiltration in tissues, as well as …

Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an
autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically …

Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Abstract Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal
recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to …

Background Acid sphingomyelinase deficiency (ASMD),[Niemann-Pick Disease Types A
and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of the …

Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid
species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick …

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) …

Background Breast cancer is the most commonly occurring neoplasm in females, comprising
16% of all female cancers worldwide. Various studies indicate some discrepancies …

Lysosomes are intracellular organelles that are responsible for degrading and recycling
macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases …

Lysosomal storage disorders (LSD) are a rare group of genetic disorders. The major LSDs
that cause liver dysfunction are disorders of sphingolipid lipid storage [Gaucher disease …