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Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay.

作者信息

Hallett R J, Cronin S M, Morgan G, Duley J A, Fairbanks L D, Simmonds H A

机构信息

Dept of Paediatrics, St. Mary's Hospital, Portsmouth.

出版信息

Adv Exp Med Biol. 1994;370:387-9. doi: 10.1007/978-1-4615-2584-4_84.

DOI:10.1007/978-1-4615-2584-4_84
PMID:7544949
Abstract
摘要

相似文献

1
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2
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Eur J Med Genet. 2022 Mar;65(3):104428. doi: 10.1016/j.ejmg.2022.104428. Epub 2022 Jan 19.

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Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).嘌呤核苷磷酸化酶缺陷型严重联合免疫缺陷症：病例报告和系统评价（1975-2022）。
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Assessment of the red cell proteome of young patients with unexplained hemolytic anemia by two-dimensional differential in-gel electrophoresis (DIGE).采用二维差异凝胶电泳（DIGE）技术评估年轻不明原因溶血性贫血患者的红细胞蛋白质组。
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Primary immunodeficiency diseases associated with neurologic manifestations.
原发性免疫缺陷病相关的神经系统表现。
J Clin Immunol. 2012 Feb;32(1):1-24. doi: 10.1007/s10875-011-9593-8. Epub 2011 Oct 26.
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Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.两名不相关的沙特患者中的嘌呤核苷磷酸化酶缺乏症
Ann Saudi Med. 2009 Jul-Aug;29(4):309-12. doi: 10.4103/0256-4947.55320.
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When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.何时对嘌呤和嘧啶紊乱进行检查。临床及实验室指征的介绍与综述。
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