(Q26774861)

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Carmen Fiuza-Luces

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Helios Pareja-Galeano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Nuria Garatachea

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Gisela Nogales

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Alejandro Lucia

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

3

Fabian Sanchis-Gomar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Diana Villamandos García

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

Annals of Translational Medicine

11 June 2020

language of work or name

English

0 references

publication date

December 2015

0 references

published in

2 references

PubMed

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

360

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

Niemann-Pick disease type C

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

Miglustat: a review of its use 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=4701532

Niemann-Pick's and Gaucher's diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

Effects of cyclodextrin in two patients with 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=4701532

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=4701532

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

Gastrointestinal disturbances and their management in miglustat-treated 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=4701532

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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=4701532

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=4701532

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=4701532

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=4701532

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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=4701532

The cerebral defect in Tay-Sachs disease and Niemann-Pick 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=4701532

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

The effect of cholesterol-lowering agents on hepatic and plasma cholesterol 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=4701532

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4701532

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26807415

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of α-glucosidases, but not β-galactosidases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26807415

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3978/J.ISSN.2305-5839.2015.12.04

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

10.1089/REJ.2014.1609

1 reference

release_iscn7iy4ybfzrioe34yyxaus3m

Fatcat ID

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26807415%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

26807415

2 references