(Q44719324)

5 December 2017

title

Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology (English)

1 reference

purine nucleoside phosphorylase deficiency

5 December 2017

main subject

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1

Yigal Dror

1 reference

5 December 2017

8

Melvin H Freedman

1 reference

5 December 2017

Eyal Grunebaum

2

1 reference

5 December 2017

Johann Hitzler

3

1 reference

5 December 2017

Aru Narendran

4

1 reference

5 December 2017

Charles Ye

5

1 reference

5 December 2017

Raymond Tellier

6

1 reference

5 December 2017

Vernon Edwards

7

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5 December 2017

Chaim M Roifman

9

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5 December 2017

language of work or name

English

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publication date

7 January 2004

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5 December 2017

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5 December 2017

volume

55

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5 December 2017

issue

3

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5 December 2017

page(s)

472-477

1 reference

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000111286.23110.f8

5 December 2017

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Comparison between mice chimaeric and heterozygous for the X-linked gene tabby.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Dysequilibrium/ataxic diplegia with immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Deoxyguanosine Triphosphate as a Possible Toxic Metabolite in the Immunodeficiency Associated with Purine Nucleoside Phosphorylase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Rheumatoid arthritis associated with myelodysplastic syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Acute sideroblastic anemia in active systemic lupus erythematosus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Aortitis as a manifestation of myelodysplastic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Autoimmune phenomena in patients with myelodysplastic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

A practical, comprehensive classification for pediatric myelodysplastic syndromes: the CCC system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Biochemical and immunological abnormalities in purine nucleoside phosphorylase deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Mutations in purine nucleoside phosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Association of myelodysplastic changes with purine analogues

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

Behçet's disease with gastrointestinal involvement associated with myelodysplasia in a patient with congenital panhypopituitarism

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111286.23110.F8

10.1203/01.PDR.0000111286.23110.F8

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

5 December 2017

1002589188

0 references

1 reference