(Q37220691)

19 August 2017

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

1 reference

Niemann-Pick disease, type C1

19 August 2017

1 reference

1 reference

Daniel S Strasser

12

0 references

Marc C. Patterson

object named as

Marc C Patterson

13

0 references

David J. Balding

object named as

David J Balding

2

0 references

Josef Priller

object named as

Josef Priller

7

0 references

author name string

Peter Bauer

1

1 reference

19 August 2017

Hans H Klünemann

3

1 reference

19 August 2017

David E J Linden

4

1 reference

19 August 2017

Daniel S Ory

5

1 reference

19 August 2017

Mercè Pineda

6

1 reference

19 August 2017

Frederic Sedel

8

1 reference

19 August 2017

Audrey Muller

9

1 reference

19 August 2017

Harbajan Chadha-Boreham

10

1 reference

19 August 2017

Richard W D Welford

11

1 reference

19 August 2017

16 June 2013

1 reference

19 August 2017

Human Molecular Genetics

1 reference

19 August 2017

22

1 reference

19 August 2017

21

1 reference

19 August 2017

4349-4356

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

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=3792693

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=3792693

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff 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=3792693

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

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=3792693

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick 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=3792693

Blood sphingolipidomics in healthy humans: impact of sample collection methodology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

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=3792693

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

Elevated globotriaosylsphingosine is a hallmark of Fabry 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=3792693

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

The adult form 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=3792693

Adult onset Niemann-Pick disease type C presenting with psychosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

Quantification of the Fabry marker lysoGb3 in human plasma by tandem mass spectrometry.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

Niemann-Pick disease type C1 presenting with psychosis in an adolescent male.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

The neuropsychiatry of Niemann-Pick type C disease in adulthood.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792693

The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT284

Altered antigenicity of keratan sulfate proteoglycan in selected corneal diseases

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23773996

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT284

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

23773996

1 reference