Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C (Q30627598)

19 October 2017

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C (English)

1 reference

Niemann-Pick disease, type C1

19 October 2017

0 references

1 reference

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Enrico Bertini

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Adele D'Amico

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Carlo Dionisi-Vici

17

1 reference

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9 June 2020

Antonio Federico

20

1 reference

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9 June 2020

Giancarlo Parenti

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Simona Fecarotta

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Alfonso Romano

2

1 reference

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9 June 2020

Roberto Della Casa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ennio Del Giudice

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Diana Bruschini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Giuseppina Mansi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Bruno Bembi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Andrea Dardis

8

1 reference

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9 June 2020

Agata Fiumara

9

1 reference

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9 June 2020

Maja Di Rocco

10

1 reference

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9 June 2020

Dario Roccatello

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Mirella Alpa

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Federica Deodato

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Stefania Caviglia

19

1 reference

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9 June 2020

Silvia Palmeri

21

1 reference

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9 June 2020

Orazio Gabrielli

22

1 reference

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9 June 2020

Lucia Santoro

23

1 reference

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9 June 2020

Alessandro Filla

24

1 reference

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9 June 2020

Cinzia Russo

25

1 reference

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9 June 2020

Generoso Andria

27

1 reference

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9 June 2020

Graziella Uziel

11

1 reference

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9 June 2020

language of work or name

1 reference

27 February 2015

1 reference

Orphanet Journal of Rare Diseases

19 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

10

1 reference

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9 June 2020

page(s)

22

1 reference

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Creative Commons Attribution 4.0 International

9 June 2020

copyright license

start time

27 February 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13023-015-0240-y

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=4359492

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

Niemann-Pick disease type C

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

Niemann-Pick disease type C.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4359492

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

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0240-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0240-Y

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0240-Y

Long-term miglustat therapy in children with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0240-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0240-Y

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%2FS13023-015-0240-Y

Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0240-Y

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0240-Y

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%2FS13023-015-0240-Y

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25888393

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-015-0240-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25888393%20AND%20SRC:MED&resulttype=core&format=json