WFRF:(Notarangelo Luigi D.)
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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
- la Marca, Giancarlo (author)
- Canessa, Clementina (author)
- Giocaliere, Elisa (author)
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- Romano, Francesca (author)
- Malvagia, Sabrina (author)
- Funghini, Silvia (author)
- Moriondo, Maria (author)
- Valleriani, Claudia (author)
- Lippi, Francesca (author)
- Ombrone, Daniela (author)
- Della Bona, Maria Luisa (author)
- Speckmann, Carsten (author)
- Gennery, Andrew R (author)
- Weinacht, Katja (author)
- Celmeli, Fatih (author)
- Pagel, Julia (author)
- de Martino, Maurizio (author)
- Guerrini, Renzo (author)
- Wittkowski, Helmut (author)
- Santisteban, Ines (author)
- Bali, Pawan (author)
- Ikinciogullari, Aydan (author)
- Hershfield, Michael (author)
- Notarangelo, Luigi D (author)
- Resti, Massimo (author)
- Azzari, Chiara (author)
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- (creator_code:org_t)
- Elsevier BV, 2014
- 2014
- English.
- In: Journal of Allergy and Clinical Immunology. - : Elsevier BV. - 1097-6825 .- 0091-6749. ; 134:1, s. 155-155
- Journal article (peer-reviewed)
Abstract
Subject headings
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- Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocytes. Treatments are available and curative for PNP deficiency, but their efficacy depends on the early approach. PNP-combined immunodeficiency complies with the criteria for inclusion in a newborn screening program.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
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- ref (subject category)
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- Moriondo, Maria
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- Lippi, Francesca
- Ombrone, Daniela
- Della Bona, Mari ...
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- Borte, Stephan
- Brodszki, Nichol ...
- Gennery, Andrew ...
- Weinacht, Katja
- Celmeli, Fatih
- Pagel, Julia
- de Martino, Maur ...
- Guerrini, Renzo
- Wittkowski, Helm ...
- Santisteban, Ine ...
- Bali, Pawan
- Ikinciogullari, ...
- Hershfield, Mich ...
- Notarangelo, Lui ...
- Resti, Massimo
- Azzari, Chiara
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- Karolinska Institutet
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