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 …

Abstract Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive,
neurodegenerative disease associated with a wide variety of progressive neurological …

Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …

Lysosomal storage diseases (LSDs) often manifest with severe systemic and central
nervous system (CNS) symptoms. The existing treatment options are limited and have no or …

Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to
disabling neurological manifestations and premature death. The estimated disease …

Abstract Miglustat (Zavesca®, Brazaves®), a small iminosugar molecule that reversibly
inhibits glycosphingolipid synthesis, is the only disease-specific drug approved for the …

A number of metabolic disorders that affect the central nervous system can present in
childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such …

Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose
principal manifestations are age dependent. The manifestations in the perinatal period and …

Purpose Haploinsufficiency of USP7, located at chromosome 16p13. 2, has recently been
reported in seven individuals with neurodevelopmental phenotypes, including …

ABSTRACT Introduction: Niemann-Pick type C (NPC) is a neurovisceral, progressively
detrimental lysosomal storage disease with very limited therapeutic options and no …