(Q36933267)

17 August 2017

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters (English)

1 reference

17 August 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Mathieu Rodero

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Kumaran Deiva

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Isabelle Touitou

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Yanick J. Crow

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Pierre Quartier

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

F Uettwiller

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

G I Rice

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

E Lagrue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Y Marot

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

publication date

16 May 2016

1 reference

17 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

e000236

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

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

7 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4879337

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4879337

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4879337

Early-onset stroke and vasculopathy associated with mutations in ADA2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4879337

An international registry on autoinflammatory diseases: the Eurofever experience

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4879337

Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4879337

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4879337

Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4879337

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27252897

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Enzymes (isoenzyme system) as homeostatic mechanisms the isoenzyme (ADA2) of adenosine deaminase of human monocytes-macrophages as a regulator of the 2'deoxyadenosine

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27252897

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/RMDOPEN-2015-000236

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27252897%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

PubMed publication ID

27252897

1 reference