Published in Mol Genet Metab on July 15, 2015
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease. Ther Adv Neurol Disord (2016) 0.80
Current trends in oxysterol research. Biochem Soc Trans (2016) 0.79
Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease. J Pharmacol Exp Ther (2016) 0.77
PEG-lipid micelles enable cholesterol efflux in Niemann-Pick Type C1 disease-based lysosomal storage disorder. Sci Rep (2016) 0.76
Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases. Neurol Sci (2017) 0.76
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts. FASEB J (2017) 0.75
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells. J Lipid Res (2017) 0.75
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. Int J Mol Sci (2017) 0.75
Biomarkers in Lysosomal Storage Diseases. Diseases (2016) 0.75
Small molecules as therapeutic agents for inborn errors of metabolism. J Inherit Metab Dis (2016) 0.75
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol (2007) 3.94
Niemann-Pick disease type C. Clin Genet (2003) 3.64
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med (2010) 3.42
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One (2009) 2.90
Effects of cyclodextrin in two patients with Niemann-Pick Type C disease. Mol Genet Metab (2012) 2.52
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08
Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid. J Lipid Res (2009) 1.87
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res (2011) 1.76
Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells. Proc Natl Acad Sci U S A (2009) 1.69
2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease. Pediatr Res (2010) 1.46
Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment. J Neurosci (2011) 1.33
Mechanisms of aminoglycoside ototoxicity and targets of hair cell protection. Int J Otolaryngol (2011) 1.32
Normalization of cholesterol homeostasis by 2-hydroxypropyl-β-cyclodextrin in neurons and glia from Niemann-Pick C1 (NPC1)-deficient mice. J Biol Chem (2012) 1.22
Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. Curr Top Med Chem (2014) 1.19
Lung toxicity of hydroxypropyl-β-cyclodextrin infusion. Mol Genet Metab (2013) 1.19
Oxidative stress in Niemann-Pick disease, type C. Mol Genet Metab (2010) 1.18
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med (2015) 1.14
Hearing loss and hair cell death in mice given the cholesterol-chelating agent hydroxypropyl-β-cyclodextrin. PLoS One (2012) 1.03
Development and validation of sensitive LC-MS/MS assays for quantification of HP-β-CD in human plasma and CSF. J Lipid Res (2014) 0.90
HPGCD outperforms HPBCD as a potential treatment for Niemann-Pick disease type C during disease modeling with iPS cells. Stem Cells (2015) 0.87
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1). Hum Mol Genet (2014) 0.85
Auditory phenotype of Niemann-Pick disease, type C1. Ear Hear (2013) 0.82
Reply: lung toxicity of hydroxyl-β-cyclodextrin infusion. Mol Genet Metab (2013) 0.80
Influence of food intake on the pharmacokinetics of miglustat, an inhibitor of glucosylceramide synthase. J Clin Pharmacol (2007) 0.80
A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid. J Lipid Res (2015) 0.79