Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

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Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor Comprehensive report of primary immunodeficiency disorders from a tertiary care center in India.

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Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

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2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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Purine nucleoside phosphorylas ...... a first case report from India

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Purine nucleoside phosphorylas ...... a first case report from India

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Purine nucleoside phosphorylas ...... a first case report from India

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Purine nucleoside phosphorylas ...... a first case report from India

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Purine nucleoside phosphorylas ...... a first case report from India

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Purine nucleoside phosphorylas ...... a first case report from India

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Purine nucleoside phosphorylas ...... a first case report from India

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Anthony Marinaki

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Kanjaksha Ghosh

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Lynette Fairbanks

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Manisha Rajan Madkaikar

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Mukesh Desai

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Prashant Utage

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Shilpa Kulkarni

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P2860

Purine nucleoside phosphorylase deficiency

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

Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency

Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency.

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

Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.

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scholarly article

case report

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10.1136/BCR.09.2011.4804

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2011

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2011-12-08T00:00:00Z

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22669887

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purine nucleoside phosphorylase deficiency

India

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3238109

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Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

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P2860

P2860

Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P31

P356

P478

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P31

P356

P478

P577

P698

P921

P932