(Q27013427)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

3

Stephan vom Dahl

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1

Pramod K Mistry

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Barry E Rosenbloom

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

language of work or name

1 reference

1 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

Critical Reviews in Oncogenesis

26 February 2020

published in

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

volume

18

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

issue

3

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

page(s)

235-246

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

Life expectancy in Gaucher disease type 1

26 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Principles of bioactive lipid signalling: lessons from sphingolipids

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher disease gene GBA functions in immune regulation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher disease: clinical profile and therapeutic developments

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

A monozygotic twin pair with highly discordant Gaucher phenotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage 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=4437216

Hyperferritinemia and iron overload in type 1 Gaucher 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=4437216

Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher 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=4437216

The risk of Parkinson's disease in type 1 Gaucher 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=4437216

Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 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=4437216

Phenotype, diagnosis, and treatment of Gaucher's 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=4437216

Lipid composition of microdomains is altered in a cell model of Gaucher 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=4437216

Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Recommendations for the management of the haematological and onco-haematological aspects of Gaucher 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=4437216

Risk of malignant disease among 1525 adult male US Veterans with Gaucher 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=4437216

The biology of the Gaucher cell: the cradle of human chitinases.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Hepatocellular carcinoma in type 1 Gaucher disease: a case report with review of the literature.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher disease and parkinsonism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Parkinsonism among Gaucher disease carriers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher disease: complexity in a "simple" disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher 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=4437216

Chemotherapy by slowing glucosphingolipid synthesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher disease: a century of delineation and understanding

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 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=4437216

Occurrence of Parkinson's syndrome in type I Gaucher 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=4437216

Gaucher disease: resetting the clinical and scientific agenda

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Dendritic cells in patients with type I Gaucher disease are decreased in number but functionally normal.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher disease and cancer incidence: a study from the Gaucher Registry.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

The pathology of Gaucher disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4437216

A validated disease severity scoring system for adults with type 1 Gaucher disease

28 November 2018

1 reference

12 December 2020

Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease

1 reference

12 December 2020

A 27-year experience with splenectomy for Gaucher's disease

1 reference

12 December 2020

Malignant epithelioid hemangioendothelioma of the tibia associated with a bone infarct in a patient who had Gaucher disease. A case report

1 reference

12 December 2020

Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease

1 reference

12 December 2020

Increased incidence of cancer in adult Gaucher disease in Western Europe

1 reference

12 December 2020

Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention

1 reference

12 December 2020

Prevalence of type 1 Gaucher disease in the United States

1 reference

12 December 2020

Hepatocellular carcinoma in a patient with Gaucher disease on enzyme supplementation therapy

1 reference

12 December 2020

Inherited metabolic disease of the liver

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

12 December 2020

Twin pairs showing discordance of phenotype in adult Gaucher's disease

1 reference

12 December 2020

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

1 reference

12 December 2020

Pulmonary Hypertension in Two Patients with Type I Gaucher Disease while on Alglucerase Therapy

1 reference

12 December 2020

Treatment perspectives for the lysosomal storage diseases

1 reference

12 December 2020

Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease

1 reference

12 December 2020

Interaction between a serum factor and T lymphocytes in Gaucher disease

1 reference

12 December 2020

Increased risk of cancer in patients with Gaucher disease

1 reference

12 December 2020

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

1 reference

12 December 2020

T Cell Numbers Relate to Bone Involvement in Gaucher Disease

1 reference

12 December 2020

Cancer risk after splenectomy

1 reference

12 December 2020

Cytokines in Gaucher's disease

1 reference

12 December 2020

Gaucher disease: variability in phenotype among siblings

1 reference

12 December 2020

10.1615/CRITREVONCOG.2013006145

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23510066%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

2 references