(Q35053231)

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Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24278166%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24278166%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

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Gaucher's disease

1 reference

based on heuristic

inferred from title

Anne-Katrin Giese

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24278166%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ulrike Grittner

3

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1 March 2020

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Arndt Rolfs

1

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1 March 2020

Daniel Mascher

4

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1 March 2020

Deborah Elstein

5

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1 March 2020

Ari Zimran

6

1 reference

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1 March 2020

Tobias Böttcher

7

1 reference

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1 March 2020

Jan Lukas

8

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1 March 2020

Rayk Hübner

9

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1 March 2020

Uta Gölnitz

10

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1 March 2020

Anja Röhle

11

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1 March 2020

Ales Dudesek

12

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1 March 2020

Wolfgang Meyer

13

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1 March 2020

Matthias Wittstock

14

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1 March 2020

Hermann Mascher

15

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1 March 2020

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20 November 2013

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1 March 2020

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24278166%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

8

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Europe PubMed Central

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1 March 2020

11

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Europe PubMed Central

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1 March 2020

e79732

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24278166%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

copyright license

Creative Commons Attribution 3.0 Unported

20 November 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Newborn screening for lysosomal storage disorders in hungary.

1 reference

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Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

1 reference

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8 July 2018

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

How I treat Gaucher disease

1 reference

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8 July 2018

Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease

1 reference

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8 July 2018

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Newborn screening for lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Neuropathic Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Laboratory and genetic evaluation of Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Involvement of CC chemokine ligand 18 (CCL18) in normal and pathological processes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

PARC/CCL18 is a plasma CC chemokine with increased levels in childhood acute lymphoblastic leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

The human chitotriosidase gene. Nature of inherited enzyme deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Rapid method of preparation of lysoglycosphingolipids and their confirmation by delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Receiver-operating characteristic (ROC) plots: a fundamental evaluation tool in clinical medicine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Accumulation of tissue glucosylsphingosine in Gaucher-like mouse induced by the glucosylceramidase inhibitor cyclophellitol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Basic principles of ROC analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835853

8 July 2018

Identification of Biologically Active Chemokine Isoforms from Ascitic Fluid and Elevated Levels of CCL18/Pulmonary and Activation-regulated Chemokine in Ovarian Carcinoma

1 reference

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21 January 2018

Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention.

1 reference

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1 reference

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21 January 2018

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1 reference

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21 January 2018

Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

1 reference

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21 January 2018

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1 reference

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25 October 2018

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1 reference

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1 reference

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1 reference

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inferred from PubMed ID database lookup

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1 reference

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1 reference

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1 reference

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inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0079732

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24278166%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

2013PLoSO...879732R

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24278166%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

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1 March 2020

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