(Q33763605)

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

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1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Niemann-Pick disease

1 reference

based on heuristic

inferred from title

Niemann-Pick disease, type C1

1 reference

based on heuristic

inferred from title

author name string

Huiwen Zhang

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Yu Wang

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Na Lin

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Rui Yang

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Wenjuan Qiu

5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Lianshu Han

6

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Jun Ye

7

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Xuefan Gu

8

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

publication date

10 June 2014

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

82

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Disease and patient characteristics in NP-C patients: findings from an international disease registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Niemann-Pick disease type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Defective cholesterol trafficking in Niemann-Pick C-deficient cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Niemann-Pick disease type C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

Type C Niemann-Pick disease: report of a Chinese case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059728

22 June 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

Early miglustat therapy in infantile Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

The National Niemann-Pick C1 disease database: report of clinical features and health problems.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-82

21 January 2018

Low ceruloplasmin in a patient with Niemann-Pick Type C disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24915861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24915861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-9-82

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

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