Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann–Pick diseases

(2015) Glynis Klinke et al.   CLINICAL BIOCHEMISTRY

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

(2015) Sonia Pajares et al.   JOURNAL OF LIPID RESEARCH

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

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

Acetyl-dl-leucine in Niemann-Pick type C

(2015) Tatiana Bremova et al.   NEUROLOGY

A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat

(2015) Tatiana Remenova et al.   Orphanet Journal of Rare Diseases

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

(2015) Anne-Katrin Giese et al.   Orphanet Journal of Rare Diseases

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

(2015) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

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

Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

(2014) Frances M. Platt et al.   Annual Review of Genomics and Human Genetics

A new simple and rapid LC–ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann–Pick type C disease

(2014) Sara Boenzi et al.   CLINICA CHIMICA ACTA

Complex lipid trafficking in Niemann-Pick disease type C

(2014) Marie T. Vanier   JOURNAL OF INHERITED METABOLIC DISEASE

Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

(2014) Jean E. Vance et al.   JOURNAL OF LIPID RESEARCH

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

(2014) K. McKay Bounford et al.   JOURNAL OF NEUROLOGY

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

(2014) Huiwen Zhang et al.   Orphanet Journal of Rare Diseases

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

(2014) Annalisa Sechi et al.   Orphanet Journal of Rare Diseases

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

(2014) Richard W. D. Welford et al.   PLoS One

Di-22:6-bis(monoacylglycerol)phosphate: A clinical biomarker of drug-induced phospholipidosis for drug development and safety assessment

(2014) Nanjun Liu et al.   TOXICOLOGY AND APPLIED PHARMACOLOGY

Preanalytical standardization for reactive oxygen species derived oxysterol analysis in human plasma by liquid chromatography–tandem mass spectrometry

(2013) C. Helmschrodt et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

(2013) P. Bauer et al.   HUMAN MOLECULAR GENETICS

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

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

Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

(2013) Na Lin et al.   JOURNAL OF LIPID RESEARCH

Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors

(2013) Paul Helquist et al.   Neurotherapeutics

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

The role of heat shock proteins in Amyotrophic Lateral Sclerosis: The therapeutic potential of Arimoclomol

(2013) Bernadett Kalmar et al.   PHARMACOLOGY & THERAPEUTICS

LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: New biomarkers for the detection of Niemann–Pick type C disease

(2013) Masamitsu Maekawa et al.   STEROIDS

Comparison of the Diagnostic Accuracy of Di-22:6-Bis(monoacylglycerol)Phosphate and Other Urinary Phospholipids for Drug-Induced Phospholipidosis or Tissue Injury in the Rat

(2012) Karol L. Thompson et al.   INTERNATIONAL JOURNAL OF TOXICOLOGY

Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C

(2012) Veronika M. Stein et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Cyclodextrins as Functional Excipients: Methods to Enhance Complexation Efficiency

(2012) Thorsteinn Loftsson et al.   JOURNAL OF PHARMACEUTICAL SCIENCES

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

(2012) Marc C. Patterson 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

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

(2012) F. A. Wijburg et al.   NEUROLOGY

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

(2012) Mark Walterfang et al.   Orphanet Journal of Rare Diseases

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

(2011) N. Dekker et al.   BLOOD

An “Exacerbate-reverse” Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease

(2011) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Gastrointestinal disturbances and their management in miglustat-treated patients

(2011) Nadia Belmatoug et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

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

Therapeutic Strategies for Gaucher Disease: Miglustat (NB-DNJ) as a Pharmacological Chaperone for Glucocerebrosidase and the Different Thermostability of Velaglucerase Alfa and Imiglucerase

(2011) Olga Abian et al.   MOLECULAR PHARMACEUTICS

Lack of efficacy of curcumin on neurodegeneration in the mouse model of Niemann–Pick C1

(2011) Ivan A. Borbon et al.   PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

(2011) N. H. Pipalia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Design and validation of a metabolic disorder resequencing microarray (BRUM1)

(2010) Christopher K. Bruce et al.   HUMAN MUTATION

Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology

(2010) Thomas Kirkegaard et al.   NATURE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

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

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Allopregnanolone treatment delays cholesterol accumulation and reduces autophagic/lysosomal dysfunction and inflammation in Npc1−/− mouse brain

(2009) Guanghong Liao et al.   BRAIN RESEARCH

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

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

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

(2009) M. Pineda et al.   MOLECULAR GENETICS AND METABOLISM

Miglustat (Zavesca®) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme

(2009) Carla E. M. Hollak et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

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

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

(2008) Stefania Zampieri et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

Therapeutic application of histone deacetylase inhibitors for central nervous system disorders

(2008) Aleksey G. Kazantsev et al.   NATURE REVIEWS DRUG DISCOVERY

The many roles of histone deacetylases in development and physiology: implications for disease and therapy

(2008) Michael Haberland et al.   NATURE REVIEWS GENETICS

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Endogenous and synthetic neurosteroids in treatment of Niemann–Pick Type C disease

(2007) Synthia H. Mellon et al.   BRAIN RESEARCH REVIEWS