Abstract Background Niemann–Pick disease type C is a rare lysosomal storage disorder.
We evaluated the safety and efficacy of N-acetyl-l-leucine (NALL), an agent that potentially …

Objective To investigate the safety and efficacy of N-acetyl-l-leucine (NALL) on symptoms,
functioning, and quality of life in pediatric (≥ 6 years) and adult Niemann–Pick disease type …

Abstract Background Niemann-Pick disease type C (NPC) is a rare autosomal recessive
neurodegenerative lysosomal disease characterized by multiple symptoms such as …

ABSTRACT Introduction Niemann-Pick disease type C (NPC) is a rare, autosomal recessive,
lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease …

Abstract Background Niemann-Pick disease type C (NPC) is a lysosomal storage disease
with a heterogeneous neurodegenerative clinical course. Multiple therapies are in clinical …

Objective: To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on
cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C …

Abstract Background Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage
disorder characterized by progressive neurodegenerative symptomatology. The signs and …

Niemann–Pick disease, type C is a neurodegenerative, lysosomal storage disorder with a
broad clinical spectrum and a variable age of onset. The absence of a universally accepted …

Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired
intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in …

Abstract Background Niemann-Pick disease Type C (NP-C) is a rare, progressive
neurodegenerative disorder characterized by progressive neurodegeneration and …