Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …

Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …

The late endosomes/endo‐lysosomes of vertebrates contain an atypical phospholipid,
lysobisphosphatidic acid (LBPA)(also termed bis [monoacylglycero] phosphate [BMP]) …

Cyclodextrins, since their discovery in the late 19th century, were mainly regarded as
excipients. Nevertheless, developments in cyclodextrin research have shown that some of …

Abstract Background The Treatable ID App was created in 2012 as digital tool to improve
early recognition and intervention for treatable inherited metabolic disorders (IMDs) …

Cyclodextrins are widely used excipients, composed of glucopyranose units with a cyclic
structure. One of their most important properties, is that their inner cavity is hydrophobic …

Lysosomes are multifunctional, subcellular organelles with roles in plasma membrane
repair, autophagy, pathogen degradation and nutrient sensing. Dysfunctional lysosomes …

Administration of substances directly into the cerebrospinal fluid (CSF) that surrounds the
brain and spinal cord is one approach that can circumvent the blood-brain barrier to enable …

Colloidal nanoparticulate technology has been described in the literature as a versatile drug
delivery system. But it possesses some inherent lacunae in their formulation. Cyclodextrins …

Lipid rafts regulate the initiation of cellular metabolic and signaling pathways by organizing
the pathway components in ordered microdomains on the cell surface. Cellular responses …