(Q34432912)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19260119%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients (English)

1 reference

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22 January 2020

0 references

1 reference

1

1 reference

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22 January 2020

Gad Rennert

8

1 reference

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22 January 2020

author name string

Katherine A Kacena

2

1 reference

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22 January 2020

Mei Yang

3

1 reference

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22 January 2020

Ruhua Yang

4

1 reference

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22 January 2020

Advitya Malhotra

5

1 reference

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22 January 2020

Michael Boxer

6

1 reference

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22 January 2020

Kirk A Aleck

7

1 reference

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22 January 2020

Gregory M Pastores

9

1 reference

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22 January 2020

Pramod K Mistry

10

1 reference

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22 January 2020

publication date

1 April 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19260119%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Hematology

22 January 2020

published in

1 reference

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22 January 2020

volume

84

1 reference

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22 January 2020

issue

4

1 reference

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22 January 2020

page(s)

208-214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19260119%20AND%20SRC:MED&resulttype=core&format=json

Phenotype, diagnosis, and treatment of Gaucher's disease

22 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Gaucher disease: complexity in a "simple" disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Criteria for the classification of monoclonal gammopathies, multiple myeloma and related disorders: a report of the International Myeloma Working Group

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Occurrence of Parkinson's syndrome in type I Gaucher disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Gaucher's disease: a disease with chronic stimulation of the immune system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Abnormalities of cellular immunity and natural killer cells in Gaucher's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3008404

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

27 October 2018

1 reference

12 December 2020

Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis

1 reference

12 December 2020

Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience

1 reference

12 December 2020

Effect of enzyme replacement therapy on gammopathies in Gaucher disease

1 reference

12 December 2020

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

1 reference

12 December 2020

Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy

1 reference

12 December 2020

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

1 reference

12 December 2020

Quantitative imaging of Gaucher disease

1 reference

12 December 2020

Increased risk of cancer in patients with Gaucher disease

1 reference

12 December 2020

Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease

1 reference

12 December 2020

Asymptomatic Gaucher disease implications for large-scale screening

1 reference

12 December 2020

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model

1 reference

12 December 2020

Increased incidence of cancer in adult Gaucher disease in Western Europe

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJH.21362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19260119%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19260119%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

19260119

1 reference