Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP d...
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Autor*in:	Andrea Martín-Nalda [verfasserIn] Jacques G. Rivière [verfasserIn] Mireia Català-Besa [verfasserIn] Marina García-Prat [verfasserIn] Alba Parra-Martínez [verfasserIn] Mónica Martínez-Gallo [verfasserIn] Roger Colobran [verfasserIn] Ana Argudo-Ramírez [verfasserIn] Jose Luis Marín-Soria [verfasserIn] Judit García-Villoria [verfasserIn] Laura Alonso [verfasserIn] Jose Antonio Arranz-Amo [verfasserIn] Giancarlo la Marca [verfasserIn] Pere Soler-Palacín [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	purine nucleoside phosphorylase deficiency severe combined immunodeficiency newborn screening T-cell receptor excision circle

Übergeordnetes Werk:	In: International Journal of Neonatal Screening - MDPI AG, 2015, 7(2021), 4, p 62
Übergeordnetes Werk:	volume:7 ; year:2021 ; number:4, p 62

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/ijns7040062

Katalog-ID:	DOAJ018803067

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source	In International Journal of Neonatal Screening 7(2021), 4, p 62 volume:7 year:2021 number:4, p 62
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topic_facet	purine nucleoside phosphorylase deficiency severe combined immunodeficiency newborn screening T-cell receptor excision circle Pediatrics
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authorswithroles_txt_mv	Andrea Martín-Nalda @@aut@@ Jacques G. Rivière @@aut@@ Mireia Català-Besa @@aut@@ Marina García-Prat @@aut@@ Alba Parra-Martínez @@aut@@ Mónica Martínez-Gallo @@aut@@ Roger Colobran @@aut@@ Ana Argudo-Ramírez @@aut@@ Jose Luis Marín-Soria @@aut@@ Judit García-Villoria @@aut@@ Laura Alonso @@aut@@ Jose Antonio Arranz-Amo @@aut@@ Giancarlo la Marca @@aut@@ Pere Soler-Palacín @@aut@@
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callnumber-first	R - Medicine
author	Andrea Martín-Nalda
spellingShingle	Andrea Martín-Nalda misc RJ1-570 misc purine nucleoside phosphorylase deficiency misc severe combined immunodeficiency misc newborn screening misc T-cell receptor excision circle misc Pediatrics Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
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topic_title	RJ1-570 Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening purine nucleoside phosphorylase deficiency severe combined immunodeficiency newborn screening T-cell receptor excision circle
topic	misc RJ1-570 misc purine nucleoside phosphorylase deficiency misc severe combined immunodeficiency misc newborn screening misc T-cell receptor excision circle misc Pediatrics
topic_unstemmed	misc RJ1-570 misc purine nucleoside phosphorylase deficiency misc severe combined immunodeficiency misc newborn screening misc T-cell receptor excision circle misc Pediatrics
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title	Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
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title_full	Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
author_sort	Andrea Martín-Nalda
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author_browse	Andrea Martín-Nalda Jacques G. Rivière Mireia Català-Besa Marina García-Prat Alba Parra-Martínez Mónica Martínez-Gallo Roger Colobran Ana Argudo-Ramírez Jose Luis Marín-Soria Judit García-Villoria Laura Alonso Jose Antonio Arranz-Amo Giancarlo la Marca Pere Soler-Palacín
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title_sort	early diagnosis and treatment of purine nucleoside phosphorylase (pnp) deficiency through trec-based newborn screening
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title_auth	Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
abstract	Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis.
abstractGer	Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis.
abstract_unstemmed	Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis.
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title_short	Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
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up_date	2024-07-03T20:04:36.001Z
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