497 related articles for article (PubMed ID: 24767876)
1. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
la Marca G; Canessa C; Giocaliere E; Romano F; Malvagia S; Funghini S; Moriondo M; Valleriani C; Lippi F; Ombrone D; Della Bona ML; Speckmann C; Borte S; Brodszki N; Gennery AR; Weinacht K; Celmeli F; Pagel J; de Martino M; Guerrini R; Wittkowski H; Santisteban I; Bali P; Ikinciogullari A; Hershfield M; Notarangelo LD; Resti M; Azzari C
J Allergy Clin Immunol; 2014 Jul; 134(1):155-9. PubMed ID: 24767876
[TBL] [Abstract][Full Text] [Related]
2. Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
la Marca G; Giocaliere E; Malvagia S; Villanelli F; Funghini S; Ombrone D; Della Bona M; Forni G; Canessa C; Ricci S; Romano F; Guerrini R; Resti M; Azzari C
Clin Chem Lab Med; 2016 Apr; 54(4):627-32. PubMed ID: 26466166
[TBL] [Abstract][Full Text] [Related]
3. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.
la Marca G; Canessa C; Giocaliere E; Romano F; Duse M; Malvagia S; Lippi F; Funghini S; Bianchi L; Della Bona ML; Valleriani C; Ombrone D; Moriondo M; Villanelli F; Speckmann C; Adams S; Gaspar BH; Hershfield M; Santisteban I; Fairbanks L; Ragusa G; Resti M; de Martino M; Guerrini R; Azzari C
J Allergy Clin Immunol; 2013 Jun; 131(6):1604-10. PubMed ID: 23280131
[TBL] [Abstract][Full Text] [Related]
4. The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Fekrvand S; Yazdani R; Abolhassani H; Ghaffari J; Aghamohammadi A
Immunol Invest; 2019 May; 48(4):410-430. PubMed ID: 30885031
[TBL] [Abstract][Full Text] [Related]
5. Partial deficiency of purine nucleoside phosphorylase: studies of purine and pyrimidine metabolism.
Edwards NL; Gelfand EW; Biggar D; Fox IH
J Lab Clin Med; 1978 May; 91(5):736-49. PubMed ID: 417142
[No Abstract] [Full Text] [Related]
6. The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.
Froňková E; Klocperk A; Svatoň M; Nováková M; Kotrová M; Kayserová J; Kalina T; Keslová P; Votava F; Vinohradská H; Freiberger T; Mejstříková E; Trka J; Sedivá A
PLoS One; 2014; 9(12):e114514. PubMed ID: 25485546
[TBL] [Abstract][Full Text] [Related]
7. Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.
Stoop JW; Zegers BJ; Hendrickx GF; van Heukelom LH; Staal GE; de Bree PK; Wadman SK; Ballieux RE
N Engl J Med; 1977 Mar; 296(12):651-5. PubMed ID: 402573
[TBL] [Abstract][Full Text] [Related]
8. Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
Grunebaum E; Zhang J; Roifman CM
Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1411-5. PubMed ID: 15571269
[TBL] [Abstract][Full Text] [Related]
9. Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients.
Torun B; Bilgin A; Orhan D; Gocmen R; Kılıc SS; Kuskonmaz B; Cetinkaya D; Tezcan I; Cagdas D
Eur J Med Genet; 2022 Mar; 65(3):104428. PubMed ID: 35063692
[TBL] [Abstract][Full Text] [Related]
10. Incorporation of purine nucleosides in cultured fibroblasts from a patient with purine nucleoside phosphorylase deficiency and associated T-cell immunodeficiency.
Burke WG; Chen SH; Scott CR; Ammann AJ
J Cell Physiol; 1977 Jul; 92(1):109-13. PubMed ID: 408357
[TBL] [Abstract][Full Text] [Related]
11. Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.
Parvaneh N; Ashrafi MR; Yeganeh M; Pouladi N; Sayarifar F; Parvaneh L
Brain Dev; 2007 Mar; 29(2):124-6. PubMed ID: 16949240
[TBL] [Abstract][Full Text] [Related]
12. The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.
la Marca G; Giocaliere E; Malvagia S; Funghini S; Ombrone D; Della Bona ML; Canessa C; Lippi F; Romano F; Guerrini R; Resti M; Azzari C
J Pharm Biomed Anal; 2014 Jan; 88():201-6. PubMed ID: 24076575
[TBL] [Abstract][Full Text] [Related]
13. Defining combined immunodeficiency.
Roifman CM; Somech R; Kavadas F; Pires L; Nahum A; Dalal I; Grunebaum E
J Allergy Clin Immunol; 2012 Jul; 130(1):177-83. PubMed ID: 22664165
[TBL] [Abstract][Full Text] [Related]
14. Purine nucleoside phosphorylase deficiency.
Markert ML
Immunodefic Rev; 1991; 3(1):45-81. PubMed ID: 1931007
[TBL] [Abstract][Full Text] [Related]
15. Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.
Somech R; Lev A; Simon AJ; Korn D; Garty BZ; Amariglio N; Rechavi G; Almashanu S; Zlotogora J; Etzioni A
Isr Med Assoc J; 2013 Aug; 15(8):404-9. PubMed ID: 24079059
[TBL] [Abstract][Full Text] [Related]
16. Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.
de Felipe B; Olbrich P; Lucenas JM; Delgado-Pecellin C; Pavon-Delgado A; Marquez J; Salamanca C; Soler-Palacin P; Gonzalez-Granado LI; Antolin LF; Borte S; Neth O
Pediatr Allergy Immunol; 2016 Feb; 27(1):70-7. PubMed ID: 26498110
[TBL] [Abstract][Full Text] [Related]
17. A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.
Celmeli F; Turkkahraman D; Uygun V; la Marca G; Hershfield M; Yesilipek A
Pediatr Transplant; 2015 Mar; 19(2):E47-50. PubMed ID: 25514831
[TBL] [Abstract][Full Text] [Related]
18. Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.
Grunebaum E; Campbell N; Leon-Ponte M; Xu X; Chapdelaine H
Front Immunol; 2020; 11():1257. PubMed ID: 32695102
[No Abstract] [Full Text] [Related]
19. Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency.
Somech R; Lev A; Grisaru-Soen G; Shiran SI; Simon AJ; Grunebaum E
Immunol Res; 2013 May; 56(1):150-4. PubMed ID: 23371835
[TBL] [Abstract][Full Text] [Related]
20. Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency.
Cohen A; Gudas LJ; Ammann AJ; Staal GE; Martin DW
J Clin Invest; 1978 May; 61(5):1405-9. PubMed ID: 96138
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
