Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by
deficient activity of acid sphingomyelinase (ASM) enzyme, leading to the accumulation of …

The world of rare interstitial lung diseases (ILDs) is diverse and complex. Diagnosis and
therapy usually pose challenges. This review describes a selection of rare and ultrarare …

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

Background Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder
(LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include …

At any age, respiratory manifestations are a major cause of increased morbidity and
mortality of inherited metabolic diseases (IMDs). Type and severity are extremely variable …

Acid sphingomyelinase deficiency (ASMD) is a rare inherited lipid storage disorder caused
by a deficiency in lysosomal enzyme acid sphingomyelinase which results in the …

Vascular inflammation critically regulates endothelial cell (EC) pathophenotypes, particularly
in pulmonary arterial hypertension (PAH). Dysregulation of lysosomal activity and …

Niemann–Pick Disease (NPD) is a rare autosomal recessive disease belonging to
lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and …

Endolysosomal cation channels are emerging as key players of endolysosomal function
such as endolysosomal trafficking, fusion/fission, lysosomal pH regulation, autophagy …

Niemann-Pick disease (NPD) is a rare lysosomal storage disease (LSD) with multisystemic
involvement. The disease is heterogeneous and classified into three subtypes: type A and B …