Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann–Pick type C disease: review of initial published cases

Use of 2 hydroxypropyl-beta-cyclodextrin therapy in two adult Niemann Pick Type C patients

(2016) Ana Alejandra García-Robles et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Phase 1/2 evaluation of intrathecal 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease type C1

(2016) Forbes D. Porter et al.   MOLECULAR GENETICS AND METABOLISM

Hearing Loss and Otopathology Following Systemic and Intracerebroventricular Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin

(2015) Scott Cronin et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid

(2015) Rohini Sidhu et al.   JOURNAL OF LIPID RESEARCH

Intrathecal 2-Hydroxypropyl-Beta-Cyclodextrin (HPBCD) therapy in adult-onset Niemann-Pick Disease Type C (NPC)

(2015) Y. Sakiyama et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

43rd Annual Meeting of the Child Neurology Society

(2014)   ANNALS OF NEUROLOGY

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

43rd ESCP international symposium on clinical pharmacy patient safety: bridging the gaps Copenhagen, Denmark, 22–24 October 2014

(2014)   International Journal of Clinical Pharmacy

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2013) David Moher   ANNALS OF INTERNAL MEDICINE

Miglustat: A Review of Its Use in Niemann-Pick Disease Type C

(2013) Katherine A. Lyseng-Williamson   DRUGS

Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability

(2013) Charles C. Pontikis et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Niemann-Pick disease type C symptomatology: an expert-based clinical description

(2013) Eugen Mengel et al.   Orphanet Journal of Rare Diseases

Disease and patient characteristics in NP-C patients: findings from an international disease registry

(2013) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

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

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

Intrathecal Hydroxy-Propyl-Beta-Cyclodextrin Reverses Hearing Loss in Identical Twin Girls with Niemann-Pick Type C Disease

(2012) Caroline Hastings et al.   MOLECULAR GENETICS AND METABOLISM

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

(2012) Muneaki Matsuo et al.   MOLECULAR GENETICS AND METABOLISM

Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment

(2011) A. Aqul et al.   JOURNAL OF NEUROSCIENCE

Intrathecal cyclodextrin therapy of feline Niemann-Pick Type C disease

(2011) Charles Vite et al.   MOLECULAR GENETICS AND METABOLISM

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

604 Large Focal Cerebral Haematomas: Neonatal Presentation and Outcome

(2010) J Sarajlija et al.   PEDIATRIC RESEARCH

99 Correlation of Non-Invasive Systolic and Mean Blood Pressure (BP) Measurements with Echocardiographic Haemodynamic Assessment

(2010) S Gupta et al.   PEDIATRIC RESEARCH

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

(2009) Nicole M. Yanjanin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid

(2009) Benny Liu et al.   JOURNAL OF LIPID RESEARCH

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA