(Q26747384)

Niemann-Pick disease, type C1

title

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

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9 June 2020

Chris Hendriksz

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9 June 2020

author name string

Marie T Vanier

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9 June 2020

Peter Bauer

3

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9 June 2020

Maria J Coll

4

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9 June 2020

Alberto Burlina

5

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9 June 2020

Philippe Latour

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9 June 2020

Cyril Goizet

8

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9 June 2020

Richard W D Welford

9

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9 June 2020

Thorsten Marquardt

10

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9 June 2020

Stefan A Kolb

11

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27339554%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

9 June 2020

language of work or name

English

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publication date

August 2016

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published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27339554%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

118

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9 June 2020

issue

4

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9 June 2020

page(s)

244-254

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A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

9 June 2020

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Niemann-Pick disease type C.

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Niemann-Pick disease type C

7 January 2021

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Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport

7 January 2021

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Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease

7 January 2021

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Complex lipid trafficking in Niemann-Pick disease type C.

7 January 2021

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

7 January 2021

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

7 January 2021

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Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

7 January 2021

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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

7 January 2021

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

7 January 2021

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Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts

7 January 2021

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Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

7 January 2021

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Analysis of cholesterol trafficking with fluorescent probes

7 January 2021

1 reference

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Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

7 January 2021

1 reference

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Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

7 January 2021

1 reference

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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

7 January 2021

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Molecular analysis of 30 Niemann-Pick type C patients from Spain

7 January 2021

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Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

The adult form of Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

7 January 2021

1 reference

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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Cholesterol-binding molecules MLN64 and ORP1L mark distinct late endosomes with transporters ABCA3 and NPC1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Late endosomal transport and tethering are coupled processes controlled by RILP and the cholesterol sensor ORP1L.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Small regulators, major consequences - Ca²⁺ and cholesterol at the endosome-ER interface

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Broad screening test for sphingolipid-storage diseases.

7 January 2021

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Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes.

7 January 2021

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The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Association of chitotriosidase enzyme activity and genotype with the risk of nephropathy in type 2 diabetes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Chitotriosidase activity in sarcoidosis and some other pulmonary diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Chitotriosidase in Patients with Acute Ischemic Stroke

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Prognostic value of plasma chitotriosidase activity in acute stroke patients.

7 January 2021

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The human chitotriosidase gene. Nature of inherited enzyme deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Clinical, biochemical and molecular characterization of prosaposin deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Increased Levels of Sphingosylphosphorylcholine (SPC) in Plasma of Metabolic Syndrome Patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Secondary lipid accumulation in lysosomal disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Effect of lysosomal storage on bis(monoacylglycero)phosphate.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Biomarkers to monitor drug-induced phospholipidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Comparison of urinary and serum levels of di-22:6-bis(monoacylglycerol)phosphate as noninvasive biomarkers of phospholipidosis in rats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

The Human Gene Mutation Database: 2008 update

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

NPC-db, a Niemann-Pick type C disease gene variation database

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.004

10.1016/J.YMGME.2016.06.004

7 January 2021

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

2703653

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27339554%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

2703653

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2703653