Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hemat...
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation
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Author / Creator
Karaaslan, Betul Gemici , Turan, Isilay , Aydemir, Sezin , Meric, Zeynep Akyuncu , Atay, Didem , Akcay, Arzu , Sari, Aysun Ayaz , Hershfield, Michael , Cipe, Funda , Aksoy, Basak Adakli , Ersoy, Gizem Zengin , Bozkurt, Ceyhun , Demirkol, Yasemin Kendir , Ozturk, Gulyuz , Aydogmus, Cigdem , Kiykim, Ayca and Cokugras, Haluk
Publisher
New York: Springer US
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Language
English
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Publisher
New York: Springer US
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Background
Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodeficiency. The phenotype is profound T cell deficiency with variable B and NK cell functions and results in recurrent and persistent infections that typically begin in the first year of life. Neurologic findings occur in approximately two-th...
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Full title
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation
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Record Identifier
TN_cdi_proquest_miscellaneous_3153557150
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3153557150
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-023-01585-6
