Niemann-Pick disease type C symptomatology: an expert-based clinical description (Q26860273)

1

object named as

Eugen Mengel

1 reference

author name string

Hans-Hermann Klünemann

2

1 reference

Charles M Lourenço

3

1 reference

Christian J Hendriksz

4

1 reference

Frédéric Sedel

5

1 reference

Stefan A Kolb

7

1 reference

Orphanet Journal of Rare Diseases

language of work or name

1 reference

17 October 2013

6 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

27 June 2019

6 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

27 June 2019

8

1 reference

page(s)

166

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Creative Commons Attribution 2.0 Generic

copyright license

5 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-166

27 June 2019

0 references

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Niemann-Pick disease type C

21 March 2017

1 reference

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2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

The basal ganglia and cerebellum interact in the expression of dystonic movement

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Linkage of Niemann-Pick disease type C to human chromosome 18

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D)

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Hearing loss and hair cell death in mice given the cholesterol-chelating agent hydroxypropyl-β-cyclodextrin

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Brain stem control of swallowing: neuronal network and cellular mechanisms

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

The Denver developmental screening test

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

21 March 2017

The medial temporal lobe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Vertical supranuclear gaze palsy in Niemann-Pick type C disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

The autosomal recessive cerebellar ataxias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Cholesterol influences voltage-gated calcium channels and BK-type potassium channels in auditory hair cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Clinical study of the responsible lesion for dysarthria in the cerebellum

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Lysosomal storage disorders in the newborn

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Movement disorders and inborn errors of metabolism in adults: a diagnostic approach

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Frontal-subcortical dementias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Tuning of the outer hair cell motor by membrane cholesterol.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

The adult form of Niemann-Pick disease type C.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Functions of frontostriatal systems in cognition: comparative neuropsychopharmacological studies in rats, monkeys and humans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Neurophysiology of swallowing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Niemann-Pick disease type C.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Aspiration pneumonia and dysphagia in the elderly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

COWAT metanorms across age, education, and gender

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Loss of recent memory after bilateral hippocampal lesions. 1957.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

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

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

Subcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

Griffiths Scales of Mental Development and different users.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

21 January 2018

Frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-166

Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853996

Therapy of Niemann-Pick disease, type C.

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24135395

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

https://pubmed.ncbi.nlm.nih.gov/24135395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

1 reference

https://pubmed.ncbi.nlm.nih.gov/24135395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-166

1 reference

Dimensions Publication ID

3766293

1030528670

0 references

Fatcat ID

release_ynf2332ebjhxbolp24nylcoxbe

0 references

3766293

1 reference

1 reference

1 reference