Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation in Npc1-Null Cells

(2020) Sanzana Hoque et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

(2020) Rohini Sidhu et al.   MOLECULAR GENETICS AND METABOLISM

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

(2019) Giulia Polo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

(2019) Rohini Sidhu et al.   JOURNAL OF LIPID RESEARCH

Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

(2019) Dominika Sitarska et al.   METABOLIC BRAIN DISEASE

Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C

(2019) Masamitsu Maekawa et al.   JOURNAL OF LIPID RESEARCH

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis

(2019) Caroline Hastings et al.   Orphanet Journal of Rare Diseases

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients

(2018) Tatiane Grazieli Hammerschmidt et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature

(2018) M. Voorink-Moret et al.   MOLECULAR GENETICS AND METABOLISM

Consensus clinical management guidelines for Niemann-Pick disease type C

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

Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin

(2018) Elizabeth Berry-Kravis et al.   PEDIATRIC NEUROLOGY

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency

(2018) Federica Deodato et al.   CLINICA CHIMICA ACTA

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots

(2018) Xuntian Jiang et al.   MOLECULAR GENETICS AND METABOLISM

Determination of serum cholestane-3β,5α,6β-triol by gas chromatography–mass spectrometry for identification of Niemann-Pick type C (NPC) disease

(2017) Frank Kannenberg et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

(2017) Magali Pettazzoni et al.   PLoS One

Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis

(2016) G.S. Ribas et al.   CLINICA CHIMICA ACTA

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

(2016) Milena Romanello et al.   CLINICA CHIMICA ACTA

High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease

(2016) Giulia Polo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease

(2016) Francesca Mazzacuva et al.   FEBS LETTERS

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism

(2016) Sara Boenzi et al.   JOURNAL OF LIPID RESEARCH

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

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

(2016) Marie T. Vanier et al.   MOLECULAR GENETICS AND METABOLISM

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

(2016) Xuntian Jiang et al.   Science Translational Medicine

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

(2016) Janine Reunert et al.   EBioMedicine

Efficacy of 2-Hydroxypropyl-β-cyclodextrin in Niemann–Pick Disease Type C Model Mice and Its Pharmacokinetic Analysis in a Patient with the Disease

(2015) Yuta Tanaka et al.   BIOLOGICAL & PHARMACEUTICAL BULLETIN

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

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

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

(2015) M. Praggastis et al.   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

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

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

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

Systemic administration of 2-hydroxypropyl-β-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver function

(2014) Adam M Lopez et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1)

(2014) Brett Tortelli et al.   HUMAN MOLECULAR GENETICS

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

(2014) Danielle te Vruchte et al.   JOURNAL OF CLINICAL INVESTIGATION

Complex lipid trafficking in Niemann-Pick disease type C

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

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

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

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

A model of lysosomal pH regulation

(2013) Yoichi Ishida et al.   JOURNAL OF GENERAL PHYSIOLOGY

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

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

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

Alteration of Gene Expression Profile in Niemann-Pick Type C Mice Correlates with Tissue Damage and Oxidative Stress

(2011) Mary C. Vázquez et al.   PLoS One

Oxidative stress in Niemann–Pick disease, type C

(2010) Rao Fu et al.   MOLECULAR GENETICS AND METABOLISM

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Weekly Cyclodextrin Administration Normalizes Cholesterol Metabolism in Nearly Every Organ of the Niemann-Pick Type C1 Mouse and Markedly Prolongs Life

(2010) Charina M Ramirez et al.   PEDIATRIC RESEARCH

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

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

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

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

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