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Items: 1 to 20 of 101

1.

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.

PMID:
14711904
2.

Purine nucleoside phosphorylase deficiency.

Markert ML.

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

PMID:
1931007
3.

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
4.

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.

PMID:
24767876
5.

[Purine nucleoside phosphorylase (PNP) deficiency].

Sakiyama T.

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

PMID:
8976114
6.

Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency.

Delicou S, Kitra-Roussou V, Peristeri J, Goussetis E, Vessalas G, Rigatou E, Psychou F, Salavoura K, Grafakos S.

Pediatr Transplant. 2007 Nov;11(7):799-803.

PMID:
17910661
7.

Effects of purine nucleoside phosphorylase deficiency on thymocyte development.

Papinazath T, Min W, Sujiththa S, Cohen A, Ackerley C, Roifman CM, Grunebaum E.

J Allergy Clin Immunol. 2011 Oct;128(4):854-863.e1. doi: 10.1016/j.jaci.2011.07.039.

PMID:
21868080
8.

Lentivirus gene therapy for purine nucleoside phosphorylase deficiency.

Liao P, Toro A, Min W, Lee S, Roifman CM, Grunebaum E.

J Gene Med. 2008 Dec;10(12):1282-93. doi: 10.1002/jgm.1261.

PMID:
18924118
9.
10.

Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning.

Classen CF, Schulz AS, Sigl-Kraetzig M, Hoffmann GF, Simmonds HA, Fairbanks L, Debatin KM, Friedrich W.

Bone Marrow Transplant. 2001 Jul;28(1):93-6.

11.
12.

Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation.

Carpenter PA, Ziegler JB, Vowels MR.

Bone Marrow Transplant. 1996 Jan;17(1):121-4.

PMID:
8673045
13.
14.

Therapy in adenosine deaminase and purine nucleoside phosphorylase deficient patients.

Zegers BJ, Stoop JW.

Clin Biochem. 1983 Feb;16(1):43-7. Review.

PMID:
6407780
15.

Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling.

Broome CB, Graham ML, Saulsbury FT, Hershfield MS, Buckley RH.

J Pediatr. 1996 Mar;128(3):373-6.

PMID:
8774508
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19.

A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics.

Rijksen G, Kuis W, Wadman SK, Spaapen LJ, Duran M, Voorbrood BS, Staal GE, Stoop JW, Zegers BJ.

Pediatr Res. 1987 Feb;21(2):137-41.

PMID:
3103087
20.

Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice.

Mansouri A, Min W, Cole CJ, Josselyn SA, Henderson JT, van Eede M, Henkelman RM, Ackerley C, Grunebaum E, Roifman CM.

Neurobiol Dis. 2012 Aug;47(2):201-9. doi: 10.1016/j.nbd.2012.04.001.

PMID:
22521465
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