Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. (Q36299871)

13 August 2017

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

1 reference

13 August 2017

1 reference

Vassili Valayannopoulos

2

object named as

Vassili Valayannopoulos

1 reference

Thierry Billette de Villemeur

13 August 2017

12

object named as

Thierry Billette de Villemeur

1 reference

13 August 2017

Bénédicte Héron

1

1 reference

13 August 2017

Julien Baruteau

3

1 reference

13 August 2017

Brigitte Chabrol

4

1 reference

13 August 2017

Hélène Ogier

5

1 reference

13 August 2017

Philippe Latour

6

1 reference

13 August 2017

Dries Dobbelaere

7

1 reference

13 August 2017

Didier Eyer

8

1 reference

13 August 2017

François Labarthe

9

1 reference

13 August 2017

Hélène Maurey

10

1 reference

13 August 2017

Jean-Marie Cuisset

11

1 reference

13 August 2017

Frédéric Sedel

13

1 reference

13 August 2017

Marie T Vanier

14

1 reference

13 August 2017

7 June 2012

1 reference

Orphanet Journal of Rare Diseases

13 August 2017

1 reference

13 August 2017

7

1 reference

13 August 2017

36

1 reference

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

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

Gastrointestinal disturbances and their management in miglustat-treated patients.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

Niemann-Pick disease type C

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

Motion analysis of a child with Niemann-Pick disease type C treated with miglustat

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

The adult form of Niemann-Pick disease type C.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

Niemann-Pick disease type C.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

Niemann‐Pick disease type C: An update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

29 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-36

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%2F1750-1172-7-36

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%2F1750-1172-7-36

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-36

Critical role for glycosphingolipids in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-36

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%2F1750-1172-7-36

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-36

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-36

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-36

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-36

Dietary modifications in patients receiving miglustat.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

Niemann-Pick type C disease: clinical presentations in pediatric patients

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465012

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

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22676771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The clinical spectrum of fetal Niemann-Pick type C

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22676771

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/22676771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-7-36

1 reference

Dimensions Publication ID

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

22676771

1 reference