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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:
Purine nucleoside phosphorylase deficiency.
Markert ML.
Immunodefic Rev. 1991;3(1):45-81.
PMID:1931007
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 (PNP) deficiency].
Sakiyama T.
Nihon Rinsho. 1996 Dec;54(12):3328-32.
PMID:8976114
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 (PNP) deficiency].
Sumi S, Wada Y.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):458-9.
PMID:9590100
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
[Purine nucleoside phosphorylase deficiency].
Sakiyama Y.
Ryoikibetsu Shokogun Shirizu. 2000;(32):43-5.
PMID:11212766
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