Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor-Reference-Cited by-同舟云学术

Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor

Published:2015 Issue: Volume: Page:83-89
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Brodszki Nicholas,Svensson Maria,van Kuilenburg André B. P.,Meijer Judith,Zoetekouw Lida,Truedsson Lennart,Toporski Jacek

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_444

Reference28 articles.

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2. Aytekin C, Yuksek M, Dogu F et al (2008) An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. Pediatr Transplant 12:479–482

3. Baguette C, Vermylen C, Brichard B et al (2002) Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. J Pediatr Hematol Oncol 24:69–71

4. Broome CB, Graham ML, Saulsbury FT, Hershfield MS, Buckley RH (1996) Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling. J Pediatr 128:373–376

5. Bzowska A, Kulikowska E, Shugar D (2000) Purine nucleoside phosphorylases: properties, functions, and clinical aspects. Pharmacol Ther 88:349–425

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