179 related articles for article (PubMed ID: 12629750)
1. [PNP (purine nucleoside phosphorylase) deficiency].
Taniguchi A
Nihon Rinsho; 2003 Jan; 61 Suppl 1():372-6. PubMed ID: 12629750
[No Abstract] [Full Text] [Related]
2. [Purine nucleoside phosphorylase (PNP) deficiency].
Sumi S; Wada Y
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):458-9. PubMed ID: 9590100
[No Abstract] [Full Text] [Related]
3. 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]
4. [Hypouricemia--definition and classification].
Fujimori S
Nihon Rinsho; 2003 Jan; 61 Suppl 1():353-6. PubMed ID: 12629745
[No Abstract] [Full Text] [Related]
5. A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
Al-Saud B; Al Alawi Z; Hussain FB; Hershfield M; Alkuraya FS; Al-Mayouf SM
J Clin Immunol; 2020 Aug; 40(6):833-839. PubMed ID: 32514656
[TBL] [Abstract][Full Text] [Related]
6. Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge.
Watson AR; Simmonds HA; Webster DR; Layward L; Evans DI
Adv Exp Med Biol; 1984; 165 Pt A():53-9. PubMed ID: 6426259
[No Abstract] [Full Text] [Related]
7. 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]
8. Immunodeficiencies associated with errors in purine metabolism.
Edwards NL
Med Clin North Am; 1985 May; 69(3):505-18. PubMed ID: 3925260
[TBL] [Abstract][Full Text] [Related]
9. Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.
Baguette C; Vermylen C; Brichard B; Louis J; Dahan K; Vincent MF; Cornu G
J Pediatr Hematol Oncol; 2002 Jan; 24(1):69-71. PubMed ID: 11902746
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis].
Iwahana H; Itakura M
Nihon Rinsho; 1996 Dec; 54(12):3303-8. PubMed ID: 8976110
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [Purine nucleoside phosphorylase (PNP)].
Sakiyama T
Nihon Rinsho; 1996 Dec; 54(12):3220-5. PubMed ID: 8976095
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice.
Arpaia E; Benveniste P; Di Cristofano A; Gu Y; Dalal I; Kelly S; Hershfield M; Pandolfi PP; Roifman CM; Cohen A
J Exp Med; 2000 Jun; 191(12):2197-208. PubMed ID: 10859343
[TBL] [Abstract][Full Text] [Related]
15. Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay.
Hallett RJ; Cronin SM; Morgan G; Duley JA; Fairbanks LD; Simmonds HA
Adv Exp Med Biol; 1994; 370():387-9. PubMed ID: 7544949
[No Abstract] [Full Text] [Related]
16. [PNP deficiency].
Sato T; Wakabayashi Y
Ryoikibetsu Shokogun Shirizu; 1998; (21 Pt 2):228-31. PubMed ID: 9833477
[No Abstract] [Full Text] [Related]
17. 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]
18. Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families.
Wortmann RL; Andres C; Kaminska J; Mejias E; Gelfand E; Arnold W; Rich K; Fox IH
Arthritis Rheum; 1979 May; 22(5):524-31. PubMed ID: 36100
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.
Toro A; Grunebaum E
J Clin Invest; 2006 Oct; 116(10):2717-26. PubMed ID: 16964310
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
