(Q61386389)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8982958%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain (English)

1 reference

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22 October 2019

1 reference

2

1 reference

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22 October 2019

Susana Balcells

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8982958%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

D Grinberg

8

1 reference

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22 October 2019

author name string

A Chabás

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8982958%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

R González-Duarte

4

1 reference

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22 October 2019

C Casanova

5

1 reference

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22 October 2019

J Colomer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8982958%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

L Vilageliu

7

1 reference

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22 October 2019

publication date

1 January 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8982958%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

22 October 2019

published in

1 reference

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22 October 2019

volume

19

1 reference

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22 October 2019

page(s)

798-800

1 reference

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22 October 2019

issue

6

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf01799179

22 October 2019

exact match

0 references

cites work

Three unique base pair changes in a family with Gaucher disease

1 reference

12 December 2020

Gaucher disease in Spanish patients: Analysis of eight mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Glucocerebrosidase mutations in Gaucher disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799179

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8982958%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 October 2019

0 references

1 reference