(Q36721775)

15 August 2017

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia (English)

1 reference

15 August 2017

4

Sharon A Savage

1 reference

15 August 2017

8

Bertil Glader

1 reference

15 August 2017

John H Fargo

1

1 reference

15 August 2017

Christian P Kratz

2

1 reference

15 August 2017

Neelam Giri

3

1 reference

15 August 2017

Carolyn Wong

5

1 reference

15 August 2017

Karen Backer

6

1 reference

15 August 2017

Blanche P Alter

7

1 reference

15 August 2017

language of work or name

English

0 references

publication date

17 December 2012

1 reference

British Journal of Haematology

15 August 2017

1 reference

15 August 2017

160

1 reference

15 August 2017

4

1 reference

15 August 2017

547-554

1 reference

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

How I treat Diamond-Blackfan anemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Pathophysiology and management of inherited bone marrow failure syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Mutations in SBDS are associated with Shwachman-Diamond syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Shwachman-Diamond syndrome: report from an international conference

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Elevated erythrocyte adenosine deaminase activity in patients with acquired immunodeficiency syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Congenital hypoplastic anemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609920

5 September 2018

Dyskeratosis congenita

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FBJH.12167

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome

21 January 2018

1 reference

12 December 2020

Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia

1 reference

12 December 2020

Biologic Relevance of Elevated Red Cell Adenosine Deaminase Activity in Myelodysplastic Syndromes and Paroxysmal Nocturnal Hemoglobinuria

1 reference

12 December 2020

High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP)

1 reference

12 December 2020

Diamond-Blackfan anaemia in the Italian population

1 reference

12 December 2020

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism

1 reference

12 December 2020

Adenosine deaminase activity in Diamond-Blackfan syndrome

1 reference

12 December 2020

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

12 December 2020

Adenosine deaminase activity in a series of 19 patients with the Diamond-Blackfan syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1111/BJH.12167

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23252420

1 reference