(Q40004227)

16 September 2017

title

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations (English)

1 reference

16 September 2017

1 reference

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Joris M Van Montfrans

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Esther A R Hartman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Kees P J Braun

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Eric A M Hennekam

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Elisabeth A Hak

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Paul J Nederkoorn

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Willeke F Westendorp

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Robbert G M Bredius

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Wouter J W Kollen

9

1 reference

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12 June 2020

Elisabeth H Schölvinck

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

G Elizabeth Legger

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Isabelle Meyts

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Adrian Liston

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Klaske D Lichtenbelt

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Jacques C Giltay

15

1 reference

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12 June 2020

Gijs Van Haaften

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Gaby M De Vries Simons

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Helen Leavis

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Cornelis J G Sanders

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Marc B Bierings

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Marielle E Van Gijn

22

1 reference

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12 June 2020

publication date

10 February 2016

1 reference

16 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

902-910

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

12 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Early-onset stroke and vasculopathy associated with mutations in ADA2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Mutant ADA2 in vasculopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Refined characterization and reference values of the pediatric T- and B-cell compartments

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Whole-genome sequence variation, population structure and demographic history of the Dutch population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Structural basis for the growth factor activity of human adenosine deaminase ADA2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

10.1093/RHEUMATOLOGY/KEV439

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference