(Q37602227)

21 August 2017

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker (English)

1 reference

21 August 2017

0 references

Rohini Sidhu

28

0 references

Christopher A Wassif

Christopher A Wassif

19

0 references

Anneliese O Speak

Anneliese O Speak

2

0 references

Robin Lachmann

Robin H Lachmann

8

0 references

Frances Platt

Frances M Platt

36

0 references

Eugen Mengel

Eugen Mengel

11

1 reference

21 August 2017

Christian J Hendriksz

6

0 references

author name string

Danielle te Vruchte

1

1 reference

21 August 2017

Kerri L Wallom

3

1 reference

21 August 2017

Nada Al Eisa

4

1 reference

21 August 2017

David A Smith

5

1 reference

21 August 2017

Louise Simmons

7

1 reference

21 August 2017

Alison Cousins

9

1 reference

21 August 2017

Ralf Hartung

10

1 reference

21 August 2017

Heiko Runz

12

1 reference

21 August 2017

Michael Beck

13

1 reference

21 August 2017

Yasmina Amraoui

14

1 reference

21 August 2017

Jackie Imrie

15

1 reference

21 August 2017

Elizabeth Jacklin

16

1 reference

21 August 2017

Kate Riddick

17

1 reference

21 August 2017

Nicole M Yanjanin

18

1 reference

21 August 2017

Arndt Rolfs

20

1 reference

21 August 2017

Florian Rimmele

21

1 reference

21 August 2017

Naomi Wright

22

1 reference

21 August 2017

Clare Taylor

23

1 reference

21 August 2017

Uma Ramaswami

24

1 reference

21 August 2017

Timothy M Cox

25

1 reference

21 August 2017

Caroline Hastings

26

1 reference

21 August 2017

Xuntian Jiang

27

1 reference

21 August 2017

Daniel S Ory

29

1 reference

21 August 2017

Begona Arias

30

1 reference

21 August 2017

Mylvaganam Jeyakumar

31

1 reference

21 August 2017

Daniel J Sillence

32

1 reference

21 August 2017

James E Wraith

33

1 reference

21 August 2017

Forbes D Porter

34

1 reference

21 August 2017

Mario Cortina-Borja

35

1 reference

21 August 2017

language of work or name

English

0 references

publication date

1 March 2014

1 reference

Journal of Clinical Investigation

21 August 2017

1 reference

21 August 2017

124

1 reference

21 August 2017

1320-1328

1 reference

21 August 2017

3

1 reference

Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Cyclodextrin induces calcium-dependent lysosomal exocytosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Niemann-Pick disease type C

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

B-cell kinetics in humans: rapid turnover of peripheral blood memory cells.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934186

Storage problems in lysosomal diseases

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24487591

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI72835

1 reference

21 August 2017

1 reference

21 August 2017

1 reference