(Q71519972)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

A Abrahamov

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

D Elstein

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

V Gross-Tsur

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

B Farber

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Y Glaser

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

I Hadas-Halpern

6

1 reference

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19 October 2019

S Ronen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

M Tafakjdi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

M Horowitz

9

1 reference

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19 October 2019

A Zimran

10

1 reference

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19 October 2019

language of work or name

English

0 references

publication date

1 October 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

8981

1 reference

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19 October 2019

page(s)

1000-1003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

19 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

Oculomotor apraxia: the presenting sign of Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

Gaucher's disease of the lung causing severe pulmonary hypertension with associated acute recurrent pericarditis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

Constrictive pericarditis in Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

Cardiac involvement by Gaucher's disease documented by right ventricular endomyocardial biopsy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

Unusual pericardial calcification in Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2895%2991688-1

7 January 2021

10.1016/S0140-6736(95)91688-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7475546%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference