(Q36831584)

16 August 2017

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

1 reference

Niemann-Pick disease, type C1

16 August 2017

1 reference

1 reference

7

Eugen Mengel

1 reference

16 August 2017

Miriam Stampfer

1

1 reference

16 August 2017

Susanne Theiss

2

1 reference

16 August 2017

Yasmina Amraoui

3

1 reference

16 August 2017

Xuntian Jiang

4

1 reference

16 August 2017

Sigrid Keller

5

1 reference

16 August 2017

Daniel S Ory

6

1 reference

16 August 2017

Christine Fischer

8

1 reference

16 August 2017

Heiko Runz

9

1 reference

16 August 2017

22 February 2013

1 reference

Orphanet Journal of Rare Diseases

16 August 2017

1 reference

16 August 2017

8

1 reference

16 August 2017

35

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-35

16 August 2017

0 references

cites work

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=3649939

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

Niemann-Pick disease type C

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

Finding the missing heritability of complex diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

The natural history of Niemann-Pick disease type C in the UK.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

The adult form of Niemann-Pick disease type C.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

Niemann-Pick disease type C.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

A clinical staging classification for type C Niemann-Pick disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649939

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

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23433426

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23433426

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-35

1 reference

Dimensions Publication ID

16 August 2017

0 references

1 reference

16 August 2017

1 reference