Genetic heterogeneity in partial adenosine deaminase deficiency (Q36990665)

17 August 2017

Genetic heterogeneity in partial adenosine deaminase deficiency (English)

1 reference

Vivien Roegner-Maniscalco

17 August 2017

1 reference

3

object named as

V Roegner-Maniscalco

1 reference

17 August 2017

R Hirschhorn

1

1 reference

17 August 2017

F Martiniuk

2

1 reference

17 August 2017

A Ellenbogen

4

1 reference

17 August 2017

J L Perignon

5

1 reference

17 August 2017

T Jenkins

6

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17 August 2017

language of work or name

English

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publication date

1 June 1983

1 reference

Journal of Clinical Investigation

17 August 2017

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17 August 2017

71

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17 August 2017

6

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17 August 2017

1887-1892

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Protein measurement with the Folin phenol reagent

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

Human neutral alpha-glucosidase C: genetic polymorphism including a "null" allele.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

Conversion of human erythrocyte-adenosine deaminase activity to different tissue-specific isozymes. Evidence for a common catalytic unit

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

Use of the integrated steady state rate equation to investigate product inhibition of human red cell adenosine deaminase and its relevance to immune dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

Expression of human adenosine deaminase after fusion of adenosine deaminase-deficient cells with mouse fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

The Role of Adenosine and 2'-Deoxyadenosine in Mammalian Cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370394

The investigation of reactive sulphydryls in enzymes and their variants by starch gel electrophoresis. Studies on red cell adenosine deaminase

4 September 2018

1 reference

12 December 2020

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

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

Assignment of a gene for adenosine deaminase to human chromosome 20

1 reference

12 December 2020

Micromethod for quantitation of adenosine deaminase activity in cells from human peripheral blood

1 reference

12 December 2020

Deficiency of adenosine deaminase not associated with severe combined immunodeficiency

1 reference

12 December 2020

Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate

1 reference

12 December 2020

Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency

1 reference

12 December 2020

Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency

1 reference

12 December 2020

Control of red blood cell adenine nucleotide metabolism studies of adenosine deaminase

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

Identifiers

DOI

10.1172/JCI110944

1 reference

17 August 2017

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17 August 2017

1 reference