Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity

Purine Nucleoside ◽

Donor Chimerism ◽

Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency

The American Journal of Medicine ◽

10.1016/0002-9343(79)90100-1 ◽

1979 ◽

Vol 67 (1) ◽

pp. 172-176 ◽

Cited By ~ 33

Author(s):

Kenneth C. Rich ◽

William J. Arnold ◽

Thomas Palella ◽

Irving H. Fox

Keyword(s):

Immune Deficiency ◽

Hemolytic Anemia ◽

Autoimmune Hemolytic Anemia ◽

Purine Nucleoside ◽

Purine Nucleoside Phosphorylase Deficiency ◽

Cellular Immune

Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency

Brain and Development ◽

10.1016/j.braindev.2006.07.008 ◽

2007 ◽

Vol 29 (2) ◽

pp. 124-126 ◽

Cited By ~ 15

Author(s):

Nima Parvaneh ◽

Mahmoud-Reza Ashrafi ◽

Mehdi Yeganeh ◽

Nima Pouladi ◽

Fatemeh Sayarifar ◽

...

Keyword(s):

Progressive Multifocal Leukoencephalopathy ◽

Purine Nucleoside ◽

Mononuclear Cells in S-Phase in a Patient with Purine Nucleoside Phosphorylase Deficiency

Advances in Experimental Medicine and Biology - Purine Metabolism in Man-IV ◽

10.1007/978-1-4757-0390-0_34 ◽

1984 ◽

pp. 171-174 ◽

Cited By ~ 2

Author(s):

G. T. Rijkers ◽

B. J. M. Zegers ◽

L. J. M. Spaapen ◽

D. H. Rutgers ◽

W. Kuis ◽

...

Keyword(s):

Mononuclear Cells ◽

S Phase ◽

Purine Nucleoside ◽

Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency

Clinica Chimica Acta ◽

10.1016/0009-8981(79)90293-6 ◽

1979 ◽

Vol 93 (3) ◽

pp. 419-428 ◽

Cited By ~ 15

Author(s):

A.H. Van Gennip ◽

J. Grift ◽

P.K. De Bree ◽

B.J.M. Zegers ◽

J.W. Stoop ◽

...

Keyword(s):

Urinary Excretion ◽

Orotic Acid ◽

Purine Nucleoside ◽

The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature

Immunological Investigations ◽

10.1080/08820139.2019.1570249 ◽

2019 ◽

Vol 48 (4) ◽

pp. 410-430 ◽

Cited By ~ 3

Author(s):

Saba Fekrvand ◽

Reza Yazdani ◽

Hassan Abolhassani ◽

Javad Ghaffari ◽

Asghar Aghamohammadi

Keyword(s):

Iga Deficiency ◽

Purine Nucleoside ◽

Review Of The Literature ◽

Sa.85. Gene Therapy for Purine Nucleoside Phosphorylase Deficiency

Clinical Immunology ◽

10.1016/j.clim.2006.04.317 ◽

2006 ◽

Vol 119 ◽

pp. S134-S135

Author(s):

Pu Liao ◽

Eyal Grunebaum

Keyword(s):

Gene Therapy ◽

Purine Nucleoside ◽

Purine Nucleoside Phosphorylase Deficiency in a Patient With Spastic Paraplegia and Recurrent Infections

Journal of Child Neurology ◽

10.1177/0883073807302617 ◽

2007 ◽

Vol 22 (6) ◽

pp. 741-743 ◽

Cited By ~ 19

Author(s):

Ferda Ozkinay ◽

Sacide Pehlivan ◽

Huseyin Onay ◽

Paul van den Berg ◽

Fadil Vardar ◽

...

Keyword(s):

Purine Nucleoside ◽

Recurrent Infections ◽

Spastic Paraplegia ◽

Red Cell Metabolism in Purine Nucleoside Phosphorylase Deficiency after Enzyme Replacement Therapy

Inborn Errors of Metabolism in Man - Monographs in Human Genetics ◽

10.1159/000401576 ◽

2015 ◽

pp. 104-107

Author(s):

G. E. J. Staal ◽

J. W. Stoop ◽

B. J. M. Zegers ◽

M. J. M. van der Vlist ◽

C. H. M. de Bruyn ◽

...

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Cell Metabolism ◽

Purine Nucleoside ◽

Red Cell ◽

Enzyme Replacement ◽

Red Cell Metabolism ◽

Persistent Developmental Delay Despite Successful Bone Marrow Transplantation for Purine Nucleoside Phosphorylase Deficiency

Journal of Pediatric Hematology/Oncology ◽

10.1097/00043426-200201000-00018 ◽

2002 ◽

Vol 24 (1) ◽

pp. 69-71 ◽

Cited By ~ 27

Author(s):

Christel Baguette ◽

Christiane Vermylen ◽

Bénédicte Brichard ◽

Jacques Louis ◽

Karin Dahan ◽

...

Keyword(s):

Bone Marrow ◽

Bone Marrow Transplantation ◽

Developmental Delay ◽

Marrow Transplantation ◽

Purine Nucleoside ◽

Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: Possible role of nucleoside kinase(s)

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.74.12.5677 ◽

1977 ◽

Vol 74 (12) ◽

pp. 5677-5681 ◽

Cited By ~ 228

Author(s):

D. A. Carson ◽

J. Kaye ◽

J. E. Seegmiller

Keyword(s):

Adenosine Deaminase ◽

Purine Nucleoside ◽

Adenosine Deaminase Deficiency ◽