Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment

(2020) Marc Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Recent advances in the treatment of Niemann pick disease type C: A mini-review

(2020) Adrián Matencio et al.   INTERNATIONAL JOURNAL OF PHARMACEUTICS

The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease

(2019) Natalie Hammond et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Consensus clinical management guidelines for Niemann-Pick disease type C

(2018) Tarekegn Geberhiwot et al.   Orphanet Journal of Rare Diseases

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

(2018) Mario Cortina-Borja et al.   Orphanet Journal of Rare Diseases

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Niemann–Pick type C: focus on the adolescent/adult onset form

(2016) Vincenzo Di Lazzaro et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann–Pick C1

(2015) Timothy J. Maarup et al.   MOLECULAR GENETICS AND METABOLISM

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

(2013) James E. Wraith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

(2010) Emyr Lloyd-Evans et al.   TRAFFIC