Lysosomes, single-membrane organelles defined by a uniquely strong acidic lumenal pH
and high content of acid hydrolases, are the shared degradative compartments of the …

Gangliosides are sialic acid‐containing glycosphingolipids. They occur especially on the
cellular surfaces of neuronal cells, where they form a complex pattern, but are also found in …

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease,
caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the …

Hematopoietic stem cell transplantation (HSCT) has been established as an effective
therapy for selected inborn errors of metabolism. The success of HSCT in metabolic disease …

Lysosomal storage diseases (LSDs) include approximately 70 distinct disorders that
collectively account for 14% of all inherited metabolic diseases. LSDs are caused by …

This review discusses how lipophagy and cytosolic lipolysis degrade cellular lipids, as well
as how these pathway ys communicate, how they affect lipid metabolism and energy …

Objectives Precise characterization of cognitive outcomes and factors that contribute to
cognitive variability will enable better understanding of disease progression and treatment …

Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases (LSDs),
characterized by the accumulation of glycosaminoglycans (GAGs). GAG storage-induced …

Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500
births. The first opportunity to detect IEM occurs during preconception counseling, when …

Lysosomal storage diseases and diseases of ageing share many features both at the
physiological level and with respect to the mechanisms that underlie disease pathogenesis …