(Q35200614)

7 August 2017

title

Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency (English)

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7 August 2017

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R Hirschhorn

1

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7 August 2017

A Ellenbogen

series ordinal

2

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7 August 2017

language of work or name

English

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publication date

1 January 1986

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

38

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7 August 2017

issue

1

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7 August 2017

page(s)

13-25

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Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Genetic heterogeneity in partial adenosine deaminase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Partial purification and properties of the common inherited forms of adenosine deaminase from human erythrocytes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Red cell adenosine deaminase (ADA) polymorphism in Southern Africa, with special reference to ADA deficiency among the !Kung

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Red-blood-cell adenosine deaminase deficiency in a "healthy" Kung individual

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684708

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

26 September 2018

1 reference

12 December 2020

Evidence for Control of Several Different Tissue-specific Isozymes of Adenosine Deaminase by a le Genetic Locus

1 reference

12 December 2020

Deficiency of adenosine deaminase not associated with severe combined immunodeficiency

1 reference

12 December 2020

Adenosine Deaminase Deficiency Without Immunodeficiency: Clinical and Metabolic Studies

1 reference

12 December 2020

Increased excretion of modified adenine nucleosides by children with adenosine deaminase deficiency

1 reference

12 December 2020

Dipyridamole and intravenous deoxycytidine therapy in a patient with adenosine deaminase deficiency

1 reference

12 December 2020

Identifiers

PMC publication ID

1684708

1 reference

7 August 2017

1 reference