(Q75184739)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

title

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

1 reference

4

Robert J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

author name string

Roseline Froissart

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

Nathalie Guffon

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

Marie T Vanier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

Irene Maire

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

publication date

1 November 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

16 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

volume

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

page(s)

307-314

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

10.1016/S1096-7192(03)00136-7

16 November 2019

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14680977%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

1 reference