Works matching Purine nucleoside phosphorylase deficiency
Results: 67
Çocuklarda sık yineleyen enfeksiyonlar, nörolojik bulgular, serum ürik asit düşüklüğü ve lenfopeni: Pürin nükleozid fosforilaz eksikliği, çocukluk çağı acil hastalıklarından biri.
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- Türk Pediatri Arşivi, 2020, v. 55, n. 3, p. 320, doi. 10.14744/TurkPediatriArs.2019.83788
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- Article
Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.
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- Archives of Iranian Medicine (AIM), 2023, v. 26, n. 12, p. 712, doi. 10.34172/aim.2023.105
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- Article
Purine Nucleoside Phosphorylase Deficiency Presenting with Neurological Involvement: A Case Report of Two Siblings.
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- Asthma Allergy Immunology / Astim Allerji Immunoloji, 2024, v. 22, n. 2, p. 213, doi. 10.21911/aai.2024.535
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The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.
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- 2017
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- Case Study
The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.
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- 2016
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- Case Study
Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.
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- Pediatrics International, 2002, v. 44, n. 3, p. 333, doi. 10.1046/j.1442-200X.2002.01543.x
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- Article
Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency.
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- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00581-8
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- Article
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
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- Immunological Investigations, 2019, v. 48, n. 4, p. 410, doi. 10.1080/08820139.2019.1570249
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- Article
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
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- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2062, doi. 10.1007/s10875-023-01585-6
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- Article
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 62, doi. 10.3390/ijns7040062
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- Article
An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.
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- Pediatric Transplantation, 2008, v. 12, n. 4, p. 479, doi. 10.1111/j.1399-3046.2007.00890.x
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- Article
Purine nucleoside phosphorylase deficiency with fatal course in two sisters.
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- 2010
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- journal article
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
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- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 4, p. 627, doi. 10.1515/cclm-2015-0436
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- Article
Purine Nucleoside Phosphorylase Deficiency in a Patient With Spastic Paraplegia and Recurrent Infections.
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- Journal of Child Neurology, 2007, v. 22, n. 6, p. 741, doi. 10.1177/0883073807302617
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- Article
A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.
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- Pediatric Transplantation, 2015, v. 19, n. 2, p. E47, doi. 10.1111/petr.12413
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- Article
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency.
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- Pediatric Transplantation, 2007, v. 11, n. 7, p. 799, doi. 10.1111/j.1399-3046.2007.00772.x
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- Article
Purine Nucleoside Phosphorylase (PNP) Deficiency: A Case Report.
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- Egyptian Journal of Hospital Medicine, 2020, v. 81, n. 5, p. 1967
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- Article
Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy.
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- Prenatal Diagnosis, 1989, v. 9, n. 6, p. 401, doi. 10.1002/pd.1970090605
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- Article
A rat model of purine nucleoside phosphorylase deficiency.
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- Immunology, 1986, v. 59, n. 1, p. 63
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- Article
Purine Nucleoside Phosphorylase Deficiency: A Mutation Update.
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- Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1243, doi. 10.1080/15257770.2011.630852
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- Article
Identification of Purine Nucleoside Phosphorylase Deficiency in Dried Blood Spots by a Non-Radiochemical Assay Using Reversed-Phase High-Performance Liquid Chromatography.
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- Nucleosides, Nucleotides & Nucleic Acids, 2010, v. 29, n. 4-6, p. 466, doi. 10.1080/15257771003741455
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- Article
Novel Mutations and Hot-Spots in Patients with Purine Nucleoside Phosphorylase Deficiency.
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- Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1411, doi. 10.1081/NCN-200027647
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- Article
339. Long-Term Protein Transduction Domain Mediated Intra-Cellular Delivery of Purine Nucleoside Phosphorylase (PNP) Corrects PNP Deficiency in Mice
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- 2005
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- Abstract
An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome.
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- Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0328-3
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- Article
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
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- Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 833, doi. 10.1007/s10875-020-00800-y
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- Article
Phosphorylation of deoxyguanosine by B and T lymphocytes: evidence against selective trapping of deoxyguanosine by T lymphocytes in purine nucleoside phosphorylase deficiency.
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- Clinical & Experimental Immunology, 1980, v. 42, n. 3, p. 523
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- Article
Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.
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- Clinical & Experimental Immunology, 1978, v. 34, n. 1, p. 42
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- Article
Deficiency of purine nucleoside phosphorylase activity in thymocytes from the immunodeficient diabetic BB rat.
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- Clinical & Experimental Immunology, 1991, v. 86, n. 2, p. 260
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- Article
A canine model of induced purine nucleoside phosphorylase deficiency.
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- Clinical & Experimental Immunology, 1986, v. 66, n. 1, p. 166
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- Article
Mutations in purine nucleoside phosphorylase deficiency.
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- Human Mutation, 1997, v. 9, n. 2, p. 118, doi. 10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5
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- Article
COMMON VARIABLE IMMUNODEFICIENCY AND PURINE NUCLEOTIDASE AND NUCLEOSIDE PHOSPHORYLASE DEFICIENCY: A Case Report.
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- APMIS, 1980, v. 88C, n. 1-6, p. 299, doi. 10.1111/j.1699-0463.1980.tb00110.x
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- Article
High Risk Screening of Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency in Japan.
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- Pediatrics International, 1987, v. 29, n. 1, p. 152, doi. 10.1111/j.1442-200X.1987.tb00022.x
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- Article
Screening for Adenosine Deaminase or Purine Nucleoside Phosphorylase Deficiency and a Report of Two Patients with Adenosine Deaminase Deficiency.
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- Pediatrics International, 1981, v. 23, n. 1, p. 66, doi. 10.1111/j.1442-200X.1981.tb01248.x
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- Article
NMR and Computational Study of Purine Nucleoside Phosphorylase Deficiency Markers.
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- International Review on Modelling & Simulations, 2010, v. 3, n. 5, p. 1153
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- Article
Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10935-0
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- Article
Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.
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- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.01257
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- Article
Purine Nucleoside Phosphorylase (PNP) Deficiency Leading to Accumulation of Lymphocytes in S-Phase.
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- Pediatric Hematology & Oncology, 1986, v. 3, n. 4, p. 353, doi. 10.3109/08880018609031238
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- Article
An erythrocyte Pr auto-antibody with sialoglycoprotein specificity in a patient with purine nucleoside phosphorylase deficiency.
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- Transfusion, 1985, v. 25, n. 2, p. 131, doi. 10.1046/j.1537-2995.1985.25285169204.x
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- Article
Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency.
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- Immunologic Research, 2013, v. 56, n. 1, p. 150, doi. 10.1007/s12026-012-8380-9
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- Article
Incorporation of purine nucleosides in cultured fibroblasts from a patient with purine nucleoside phosphorylase deficiency and associated T-cell immunodeficiency.
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- Journal of Cellular Physiology, 1977, v. 92, n. 1, p. 109, doi. 10.1002/jcp.1040920113
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- Article
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.
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- 2009
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- journal article
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.
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- Annals of Saudi Medicine, 2009, v. 29, n. 4, p. 309
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- Article
TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.
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- Journal of Clinical Investigation, 2006, v. 116, n. 10, p. 2717, doi. 10.1172/JCI25052
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- Article
TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.
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- Journal of Clinical Investigation, 2006, v. 116, n. 10, p. 2717, doi. 10.1172/JCI25052
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- Article
Lentivirus gene therapy for purine nucleoside phosphorylase deficiency.
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- Journal of Gene Medicine, 2008, v. 10, n. 12, p. 1282, doi. 10.1002/jgm.1261
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- Article
Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant.
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- Annals of Indian Academy of Neurology, 2019, v. 22, n. 2, p. 231, doi. 10.4103/aian.AIAN_430_17
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- Article
Physicians Poster SessionsPoster session / Day 2.
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- Bone Marrow Transplantation, 2015, v. 50, p. S312, doi. 10.1038/bmt.2015.30
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- Article
Preclinical and Clinical Evaluation of Forodesine in Pediatric and Adult B-Cell Acute Lymphoblastic Leukemia.
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- Clinical Lymphoma, Myeloma & Leukemia, 2013, v. 13, n. 4, p. 458, doi. 10.1016/j.clml.2013.04.009
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- Article
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
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- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00023
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- Article
Evidence for a Pathway Independent from 2'-Deoxyguanosine and Reversible by IL-2 by which Purine Nucleoside Phosphorylase Inhibitors Block T-Cell Proliferation.
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- Scandinavian Journal of Immunology, 1994, v. 39, n. 3, p. 327, doi. 10.1111/j.1365-3083.1994.tb03379.x
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- Article