(Q34683786)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

A reappraisal of Gaucher disease-diagnosis and disease management algorithms (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

0 references

1 reference

Maria Domenica Cappellini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Pramod K Mistry

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Elena Lukina

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Hayri Ozsan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Sara Mach Pascual

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Hanna Rosenbaum

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Maria Helena Solano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Zachary Spigelman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Jesús Villarrubia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Nora Patricia Watman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Gero Massenkeil

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

1 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Hematology

16 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

110-115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

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

16 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=3058841

Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Hyperferritinemia and iron overload in type 1 Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Life expectancy in Gaucher disease type 1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Pseudo-Gaucher cell proliferation associated with myelodysplastic syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Gaucher disease and multiple myeloma.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Pseudo-Gaucher cells in mycobacterial infection: a report of two cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Survey of hematological aspects of Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Individualization of long-term enzyme replacement therapy for Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Therapeutic goals in the treatment of Gaucher disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Gaucher disease: complexity in a "simple" disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Type 2 Gaucher disease: the collodion baby phenotype revisited

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Gaucher disease: gene frequencies and genotype/phenotype correlations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Gaucher's disease: clinical features and natural history

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Frequency of pseudo-Gaucher cells in diagnostic bone marrow biopsies from patients with Ph-positive chronic myeloid leukaemia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Enzyme, substrate, and myeloma in Gaucher disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Screening for factor XI deficiency amongst pregnant women of Ashkenazi Jewish origin

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Divergent phenotypes in Gaucher disease implicate the role of modifiers

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Gaucher's disease with myocardial involvement in pregnancy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058841

Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

26 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Fatal Respiratory Failure Caused by Pulmonary Infiltration by Pseudo-Gaucher Cells

1 reference

12 December 2020

Increased risk of cancer in patients with Gaucher disease

1 reference

12 December 2020

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring

1 reference

12 December 2020

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

1 reference

12 December 2020

Pseudo-Gaucher Cells in Multiple Myeloma

1 reference

12 December 2020

Increased incidence of cancer in adult Gaucher disease in Western Europe

1 reference

12 December 2020

Phenotype variations in Gaucher disease

1 reference

12 December 2020

Therapeutic goals in Gaucher disease

1 reference

12 December 2020

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease

1 reference

12 December 2020

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

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

Neurological evaluation of patients with Gaucher disease diagnosed as type 1

1 reference

12 December 2020

An improved high-throughput dried blood spot screening method for Gaucher disease

1 reference

12 December 2020

Management of neuronopathic Gaucher disease: revised recommendations

1 reference

12 December 2020

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

1 reference

12 December 2020

Pseudo-Gaucher cells in sickle cell anemia

1 reference

12 December 2020

Gaucher disease: variability in phenotype among siblings

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJH.21888

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080341%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference