(Q52602028)

http://europepmc.org/abstract/PMC/5889539

4 May 2018

4 references

24 March 2019

22 April 2019

25 April 2019

27 June 2019

Consensus clinical management guidelines for Niemann-Pick disease type C. (English)

1 reference

http://europepmc.org/abstract/PMC/5889539

4 May 2018

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Shaun Bolton

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Chris Hendriksz

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Paul Gissen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Alessandro Moro

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Andrea Dardis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Uma Ramaswami

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sandra Sirrs

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Mercedes Pineda Marfa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marie T Vanier

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Mark Walterfang

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Charlotte Dawson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Bénédicte Héron

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Miriam Stampfer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jackie Imrie

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ellen Crushell

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Maria J Coll

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Yann Nadjar

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Hans Klünemann

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Martin Hrebicek

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Simon A Jones

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Daniel Ory

23

1 reference

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9 June 2020

Bruno Bembi

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marc Patterson

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

International Niemann-Pick Disease Registry (INPDR)

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Eugen Mengel

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

6 April 2018

5 references

http://europepmc.org/abstract/PMC/5889539

4 May 2018

24 March 2019

22 April 2019

25 April 2019

27 June 2019

Orphanet Journal of Rare Diseases

5 references

24 March 2019

22 April 2019

25 April 2019

27 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

9 June 2020

copyright license

4 references

24 March 2019

22 April 2019

25 April 2019

https://scigraph.springernature.com/pub.10.1186/s13023-018-0785-7

27 June 2019

0 references

0 references

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22 May 2018

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Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat

22 May 2018

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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

22 May 2018

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Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

22 May 2018

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22 May 2018

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22 May 2018

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

22 May 2018

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22 May 2018

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

22 May 2018

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Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study

22 May 2018

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

22 May 2018

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Complex lipid trafficking in Niemann-Pick disease type C.

22 May 2018

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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

22 May 2018

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Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

22 May 2018

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22 May 2018

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

22 May 2018

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Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.

22 May 2018

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22 May 2018

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Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE

22 May 2018

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

22 May 2018

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Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.

22 May 2018

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22 May 2018

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

22 May 2018

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

22 May 2018

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Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures

22 May 2018

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Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C

22 May 2018

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

22 May 2018

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

22 May 2018

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

22 May 2018

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AGREE II: advancing guideline development, reporting and evaluation in health care

22 May 2018

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Niemann-Pick disease type C

22 May 2018

1 reference

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The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

22 May 2018

1 reference

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

22 May 2018

1 reference

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

22 May 2018

1 reference

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

22 May 2018

1 reference

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Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

The adult form of Niemann-Pick disease type C.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Niemann-Pick type C disease in a 68-year-old patient.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Prevalence of lysosomal storage diseases in Portugal

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

The frequency of lysosomal storage diseases in The Netherlands.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Prevalence of lysosomal storage disorders

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Niemann-Pick disease type C. From bench to bedside

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Niemann-Pick type C: a potentially treatable disorder?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5889539

The clinical spectrum of fetal Niemann-Pick type C

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29625568

12 December 2020

inferred from PubMed ID database lookup

Molecular analysis of 30 Niemann-Pick type C patients from Spain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29625568

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29625568

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/S13023-018-0785-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 June 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s13023-018-0785-7

Fatcat ID

release_joe4wqdzbzbwpndmnrcyljzium

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/joe4wqdzbzbwpndmnrcyljzium

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29625568%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference