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名词信息
中 文 名:
嘌呤核昔磷酸化酶缺乏症
英 文 名:
purine nucleoside phosphorylase deficiency
中文又称:
中文曾称:
名词来源:
所属专业:
皮肤科
所属类别:
疾病诊断名词
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Pubmed相关的文献
purine nucleoside phosphorylase deficiency
相关文献:
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients.
Torun B, Bilgin A, Orhan D, Gocmen R, Kılıc SS, Kuskonmaz B, Cetinkaya D, Tezcan I, Cagdas D.
Eur J Med Genet. 2022 Mar;65(3):104428. doi: 10.1016/j.ejmg.2022.104428. Epub 2022 Jan 19.
PMID:35063692
Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons.
Tsui M, Biro J, Chan J, Min W, Dobbs K, Notarangelo LD, Grunebaum E.
Sci Rep. 2022 May 31;12(1):9084. doi: 10.1038/s41598-022-10935-0.
PMID:35641516
Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.
Alizadeh Z, Badalzadeh M, Heydarlou H, Shakerian L, Mahlooji Rad M, Zandieh F, Fazlollahi MR.
Arch Iran Med. 2023 Dec 1;26(12):712-716. doi: 10.34172/aim.2023.105.
PMID:38431953
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Fekrvand S, Yazdani R, Abolhassani H, Ghaffari J, Aghamohammadi A.
Immunol Invest. 2019 May;48(4):410-430. doi: 10.1080/08820139.2019.1570249. Epub 2019 Mar 19.
PMID:30885031
[Purine nucleoside phosphorylase].
Pogosian LG, Akopian ZhI.
Biomed Khim. 2013 Sep-Oct;59(5):483-97. doi: 10.18097/pbmc20135905483.
PMID:24479338
Purine nucleoside phosphorylase deficiency.
Markert ML.
Immunodefic Rev. 1991;3(1):45-81.
PMID:1931007
[Purine nucleoside phosphorylase (PNP) deficiency].
Sakiyama T.
Nihon Rinsho. 1996 Dec;54(12):3328-32.
PMID:8976114
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
Karaaslan BG, Turan I, Aydemir S, Meric ZA, Atay D, Akcay A, Sari AA, Hershfield M, Cipe F, Aksoy BA, Ersoy GZ, Bozkurt C, Demirkol YK, Ozturk G, Aydogmus C, Kiykim A, Cokugras H.
J Clin Immunol. 2023 Nov;43(8):2062-2075. doi: 10.1007/s10875-023-01585-6. Epub 2023 Sep 20.
PMID:37726596
Adenosine deaminase and purine nucleoside phosphorylase deficiency: how they were discovered and what they may mean.
Giblett ER.
Ciba Found Symp. 1978;(68):3-18. doi: 10.1002/9780470720516.ch2.
PMID:115664
Purine Nucleoside Phosphorylase Deficiency: A Case Report of an Extremely Rare Disorder.
Alasmari BG, Ibrahim F, Wafa S, Alshehri A, Saeed M.
Cureus. 2024 Dec 22;16(12):e76220. doi: 10.7759/cureus.76220. eCollection 2024 Dec.
PMID:39845221
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