Search: onr:"swepub:oai:lup.lub.lu.se:8717cd05-8bc4-4762-9a5c-4d5653d3ead2" >
Diagnosis of immuno...
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la Marca, Giancarlo
(author)
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
- Article/chapterEnglish2014
Publisher, publication year, extent ...
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:8717cd05-8bc4-4762-9a5c-4d5653d3ead2
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https://lup.lub.lu.se/record/4429426URI
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https://doi.org/10.1016/j.jaci.2014.01.040DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:129426205URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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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.
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Added entries (persons, corporate bodies, meetings, titles ...)
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Canessa, Clementina
(author)
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Giocaliere, Elisa
(author)
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Romano, Francesca
(author)
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Malvagia, Sabrina
(author)
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Funghini, Silvia
(author)
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Moriondo, Maria
(author)
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Valleriani, Claudia
(author)
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Lippi, Francesca
(author)
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Ombrone, Daniela
(author)
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Della Bona, Maria Luisa
(author)
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Speckmann, Carsten
(author)
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Borte, StephanKarolinska Institutet
(author)
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Brodszki, NicholasLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-nbs
(author)
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Gennery, Andrew R
(author)
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Weinacht, Katja
(author)
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Celmeli, Fatih
(author)
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Pagel, Julia
(author)
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de Martino, Maurizio
(author)
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Guerrini, Renzo
(author)
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Wittkowski, Helmut
(author)
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Santisteban, Ines
(author)
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Bali, Pawan
(author)
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Ikinciogullari, Aydan
(author)
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Hershfield, Michael
(author)
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Notarangelo, Luigi D
(author)
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Resti, Massimo
(author)
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Azzari, Chiara
(author)
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Karolinska InstitutetPediatrik, Lund
(creator_code:org_t)
Related titles
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In:Journal of Allergy and Clinical Immunology: Elsevier BV134:1, s. 155-1551097-68250091-6749
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la Marca, Gianca ...
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Canessa, Clement ...
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Giocaliere, Elis ...
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Romano, Francesc ...
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Malvagia, Sabrin ...
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Funghini, Silvia
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Moriondo, Maria
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Valleriani, Clau ...
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Lippi, Francesca
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Ombrone, Daniela
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Della Bona, Mari ...
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Speckmann, Carst ...
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Borte, Stephan
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Brodszki, Nichol ...
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Gennery, Andrew ...
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Weinacht, Katja
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Celmeli, Fatih
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Pagel, Julia
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de Martino, Maur ...
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Guerrini, Renzo
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Wittkowski, Helm ...
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Santisteban, Ine ...
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Bali, Pawan
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Ikinciogullari, ...
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Hershfield, Mich ...
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Notarangelo, Lui ...
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Resti, Massimo
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Azzari, Chiara
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Lund University
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Karolinska Institutet