Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency (Q41521392)

2 October 2017

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title

Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency (English)

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2 October 2017

Hershfield MS

1

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2 October 2017

Arredondo-Vega FX

series ordinal

2

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2 October 2017

Santisteban I

series ordinal

3

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2 October 2017

language of work or name

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1 June 1997

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Journal of Inherited Metabolic Disease

2 October 2017

published in

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2 October 2017

volume

20

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2 October 2017

issue

2

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2 October 2017

page(s)

179-185

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https://scigraph.springernature.com/pub.10.1023/a:1005300621350

2 October 2017

exact match

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cites work

Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency

1 reference

12 December 2020

Adenosine deaminase deficiency: molecular basis and recent developments

1 reference

12 December 2020

PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years

1 reference

12 December 2020

Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c

1 reference

12 December 2020

Basis for resistance to 3-deazaaristeromycin, an inhibitor of S-adenosylhomocysteine hydrolase, in human B-lymphoblasts

1 reference

12 December 2020

Complete sequence and structure of the gene for human adenosine deaminase

1 reference

12 December 2020

Immunosuppression mediated by an inhibitor of S-adenosyl-L-homocysteine hydrolase. Prevention and treatment of collagen-induced arthritis

1 reference

12 December 2020

Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice

1 reference

12 December 2020

S-adenosylhomocysteine catabolism and basis for acquired resistance during treatment of T-cell acute lymphoblastic leukemia with 2'-deoxycoformycin alone and in combination with 9-beta-D-arabinofuranosyladenine

1 reference

12 December 2020

Adenosine, deoxyadenosine, and deoxyguanosine induce DNA cleavage in mouse thymocytes

1 reference

12 December 2020

Deduced amino acid sequence of Escherichia coli adenosine deaminase reveals evolutionarily conserved amino acid residues: implications for catalytic function

1 reference

12 December 2020

Adult onset immunodeficiency caused by inherited 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

S -Adenosylhomocysteine toxicity in normal and adenosine kinase-deficient lymphoblasts of human origin

1 reference

12 December 2020

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery

1 reference

12 December 2020

Selective inhibition of T cell activation by an inhibitor of S-adenosyl-L-homocysteine hydrolase

1 reference

12 December 2020

Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase

1 reference

12 December 2020

Bcl-2 relieves deoxyadenylate stress and suppresses apoptosis in pre-B leukemia cells.

1 reference

12 December 2020

Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations

1 reference

12 December 2020

IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency

1 reference

12 December 2020

Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency

1 reference

12 December 2020

Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapy

1 reference

12 December 2020

T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years.

1 reference

12 December 2020

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

1 reference

12 December 2020

Resistance of an adenosine kinase-deficient human lymphoblastoid cell line to effects of deoxyadenosine on growth, S-adenosylhomocysteine hydrolase inactivation, and dATP accumulation

1 reference

12 December 2020

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

1 reference

12 December 2020

Apparent suicide inactivation of human lymphoblast S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine and adenine arabinoside. A basis for direct toxic effects of analogs of adenosine

1 reference

12 December 2020

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1 reference

12 December 2020

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency

1 reference

12 December 2020

PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency

1 reference

12 December 2020

Mechanism of deoxyadenosine and 2-chlorodeoxyadenosine toxicity to nondividing human lymphocytes

1 reference

12 December 2020

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype

1 reference

12 December 2020

Alterations in deoxyribonucleotide metabolism in cultured cells with ribonucleotide reductase activities refractory to feedback inhibition by 2'-deoxyadenosine triphosphate.

1 reference

12 December 2020

Hot spot mutations in adenosine deaminase deficiency

1 reference

12 December 2020

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005300621350

7 January 2021

inferred from DOI database lookup

In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients

1 reference

12 December 2020

Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency

1 reference

12 December 2020

Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients

1 reference

12 December 2020

Adult presentation of adenosine deaminase deficiency

1 reference

12 December 2020

In vivo inhibition of mouse liver methyltransferase enzymes following treatment with 2'-deoxycoformycin and 2'-deoxyadenosine

1 reference

12 December 2020

Biochemical basis for the enhanced toxicity of deoxyribonucleosides toward malignant human T cell lines

1 reference

12 December 2020

Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity

1 reference

12 December 2020

Deoxyadenosine metabolism and cytotoxicity in cultured mouse T lymphoma cells: a model for immunodeficiency disease

1 reference

12 December 2020

Conversion of a stem cell leukemia from a T-lymphoid to a myeloid phenotype induced by the adenosine deaminase inhibitor 2'-deoxycoformycin

1 reference

12 December 2020

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

1 reference

12 December 2020

T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase

1 reference

12 December 2020

Role of S-adenosylhomocysteine in adenosine-mediated toxicity in cultured mouse T lymphoma cells

1 reference

12 December 2020

Bone marrow gene transfer in three patients with adenosine deaminase deficiency.

1 reference

12 December 2020

p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency.

1 reference

12 December 2020

Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005300621350

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Dimensions Publication ID

2 October 2017

1011667042

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