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

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 …

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

Abstract Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a
rare lipid storage disorder leading to accumulation of sphingomyelin and its precursors …

Late-onset Pompe disease (LOPD) is a rare autosomal recessive glycogen storage disease
that results in accumulation of glycogen in muscle cells causing muscular weakness. It …

The lamellar body (LB) of the alveolar type II (ATII) cell is a lysosome-related organelle
(LRO) that contains surfactant, a complex mix of mainly lipids and specific surfactant …

Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the
absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of …

Abstract Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare
autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency …

Background Although pulmonary involvement is important orbidity in Gaucher disease (GD),
it is previously reported to be rare. Moreover, no epidemiological studies described its …

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