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Items: 1 to 20 of 102

1.

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.

Alangari A, Al-Harbi A, Al-Ghonaium A, Santisteban I, Hershfield M.

Ann Saudi Med. 2009 Jul-Aug;29(4):309-12.

2.

Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India.

Madkaikar MR, Kulkarni S, Utage P, Fairbanks L, Ghosh K, Marinaki A, Desai M.

BMJ Case Rep. 2011 Dec 8;2011. pii: bcr0920114804. doi: 10.1136/bcr.09.2011.4804.

3.

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. doi: 10.1016/j.jaci.2014.01.040. Epub 2014 Apr 24.

PMID:
24767876
4.

Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.

Dalal I, Grunebaum E, Cohen A, Roifman CM.

Clin Genet. 2001 Jun;59(6):430-7.

PMID:
11453975
5.

Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient.

Sasaki Y, Iseki M, Yamaguchi S, Kurosawa Y, Yamamoto T, Moriwaki Y, Kenri T, Sasaki T, Yamashita R.

Hum Genet. 1998 Jul;103(1):81-5.

PMID:
9737781
6.

A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels.

Al-Saud B, Alsmadi O, Al-Muhsen S, Al-Ghonaium A, Al-Dhekri H, Arnaout R, Hershfield MS, Al-Mousa H.

Clin Biochem. 2009 Nov;42(16-17):1725-7. doi: 10.1016/j.clinbiochem.2009.08.017. Epub 2009 Sep 3.

PMID:
19733163
7.

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. Erratum in: Nucleosides Nucleotides Nucleic Acids. 2005;24(4):303.

PMID:
15571269
8.

Purine nucleoside phosphorylase deficiency with fatal course in two sisters.

Aytekin C, Dogu F, Tanir G, Guloglu D, Santisteban I, Hershfield MS, Ikinciogullari A.

Eur J Pediatr. 2010 Mar;169(3):311-4. doi: 10.1007/s00431-009-1029-6. Epub 2009 Aug 6.

PMID:
19657670
9.

[Purine nucleoside phosphorylase (PNP) deficiency].

Sakiyama T.

Nihon Rinsho. 1996 Dec;54(12):3328-32. Review. Japanese.

PMID:
8976114
10.

Purine nucleoside phosphorylase deficiency.

Markert ML.

Immunodefic Rev. 1991;3(1):45-81. Review.

PMID:
1931007
11.
12.

Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.

Ozkinay F, Pehlivan S, Onay H, van den Berg P, Vardar F, Koturoglu G, Aksu G, Unal D, Tekgul H, Can S, Ozkinay C.

J Child Neurol. 2007 Jun;22(6):741-3.

PMID:
17641261
13.

Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.

Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ, Markert ML.

Am J Hum Genet. 1992 Oct;51(4):763-72.

14.

A human purine nucleoside phosphorylase deficiency caused by a single base change.

Williams SR, Gekeler V, McIvor RS, Martin DW Jr.

J Biol Chem. 1987 Feb 15;262(5):2332-8.

15.

Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.

Tsuda M, Horinouchi K, Sakiyama T, Owada M.

Pediatr Int. 2002 Jun;44(3):333-4. No abstract available.

PMID:
11982911
16.

Purine nucleoside phosphorylase deficiency: a mutation update.

Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L, Marinaki A.

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1243-7. doi: 10.1080/15257770.2011.630852.

PMID:
22132981
17.
18.

Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology.

Dror Y, Grunebaum E, Hitzler J, Narendran A, Ye C, Tellier R, Edwards V, Freedman MH, Roifman CM.

Pediatr Res. 2004 Mar;55(3):472-7. Epub 2004 Jan 7.

PMID:
14711904
19.

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. doi: 10.1111/petr.12413. Epub 2014 Dec 17.

PMID:
25514831
20.

Mutations in purine nucleoside phosphorylase deficiency.

Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE.

Hum Mutat. 1997;9(2):118-21.

PMID:
9067751

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