BACKGROUND: Intellectual disability ('developmental delay'at age< 5years) affects 2.5% of
population worldwide. Recommendations to investigate genetic causes of intellectual …

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 …

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune
deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It …

Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an
autosomal recessive inheritance caused by mutations in the gene encoding for the …

Inborn errors of metabolism (IEMs) are a large group of inherited disorders characterized by
disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters. The …

Introduction This phase III, double-blind, randomised, placebo-controlled trial (and extension
phase) was designed to assess the efficacy and safety of velmanase alfa (VA) in alpha …

Mutations in human genes might lead to the loss of functional proteins, causing diseases.
Among these genetic disorders, a large class is associated with the deficiency in metabolic …

Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited diseases with
a collective frequency of∼ 1 in 7000 births, resulting from the deficiency in one or more …

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

Microglia play fundamental roles in multiple pathological primary and secondary processes
affecting the central nervous system that ultimately result in neurodegeneration and for this …