(Q37384927)

20 August 2017

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

1 reference

Niemann–Pick disease, type C

20 August 2017

0 references

0 references

1 reference

Philippa Mills

2

0 references

Frances Platt

Frances Platt

13

0 references

Paul Gissen

Paul Gissen

5

0 references

Elena-Raluca Nicoli

Elena-Raluca Nicoli

6

0 references

Stephane Camuzeaux

Stephane Camuzeaux

4

0 references

Peter Theodore Clayton

Peter T Clayton

14

0 references

author name string

Francesca Mazzacuva

1

1 reference

20 August 2017

Kevin Mills

3

1 reference

20 August 2017

Christopher Wassif

7

1 reference

20 August 2017

Danielle Te Vruchte

8

1 reference

20 August 2017

Forbes D Porter

9

1 reference

20 August 2017

Masamitsu Maekawa

10

1 reference

20 August 2017

Nariyasu Mano

11

1 reference

20 August 2017

Takashi Iida

12

1 reference

20 August 2017

language of work or name

English

0 references

publication date

3 May 2016

1 reference

20 August 2017

1 reference

20 August 2017

590

1 reference

20 August 2017

11

1 reference

20 August 2017

1651-1662

1 reference

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

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Defective cholesterol trafficking in Niemann-Pick C-deficient cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Unraveling the sterol-trafficking defect in Niemann-Pick C disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Multidrug permeases and subcellular cholesterol transport

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Identification of HE1 as the second gene of Niemann-Pick C disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Niemann-Pick type C: a disorder of cellular cholesterol trafficking

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

The structure and function of the Niemann-Pick C1 protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Identification of UDP glycosyltransferase 3A1 as a UDP N-acetylglucosaminyltransferase.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Chemical synthesis of the 3-sulfooxy-7-N-acetylglucosaminyl-24-amidated conjugates of 3beta,7beta-dihydroxy-5-cholen-24-oic acid, and related compounds: unusual, major metabolites of bile acid in a patient with Niemann-Pick disease type C1.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Niemann-pick disease type C in neonatal cholestasis at a North American Center

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Critical role for glycosphingolipids in Niemann-Pick disease type C.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5089630

The major metabolites of ursodeoxycholic acid in human urine are conjugated with N-acetylglucosamine

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27139891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27139891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27139891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/1873-3468.12196

1 reference

20 August 2017

1 reference

20 August 2017

1 reference