(Q33682490)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

1 reference

1 reference

2

1 reference

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14 October 2019

Susana Balcells

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Jose Luis Merino

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

author name string

A Chabás

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

D Grinberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

J M Burguera

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

I Mate

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

J A Sobrino

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

R Gonzàlez-Duarte

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

L Vilageliu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

language of work or name

English

0 references

publication date

1 September 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

14 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

740-742

1 reference

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14 October 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

Mutations causing Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

Enzymic differentiation of neurologic and nonneurologic forms of Gaucher's disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

Pericardial abnormalities in Gaucher's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

An activator protein of oligosaccharide sialidase.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

Gaucher's disease with mitral and aortic involvement: Echocardiographic findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

Gaucher disease: new molecular approaches to diagnosis and treatment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Intersitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051678

Calcification of the ascending aorta and aortic and mitral valves in Gaucher's disease

21 June 2018

1 reference

12 December 2020

Vascular involvement in type 3 neuronopathic Gaucher's disease

1 reference

12 December 2020

Oculomotor apraxia: the presenting sign of Gaucher disease

1 reference

12 December 2020

Gaucher disease in Spanish patients: Analysis of eight mutations

1 reference

12 December 2020

Observations on a patient with Gaucher's disease

1 reference

12 December 2020

Unusual pericardial calcification in Gaucher's disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.9.740

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8544197%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference