警惕尿酸：一名青少年特发性关节炎和遗传性黄嘌呤尿症患者出现严重的硫唑嘌呤骨髓抑制 - Suppr | 超能文献

Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.

作者信息

Tanev Dobromir, Peteva Parvoleta, Fairbanks Lynette, Marinaki Anthony, Ivanova Milena, Alaikov Tzvetan, Shivarov Velizar

机构信息

Department of Rheumatology, Sofiamed University Hospital, Sofia, Bulgaria Purine Research Laboratory, Viapath, Guy's and St Thomas', NHS Hospitals Foundation Trust, London, United Kingdom Laboratory of Clinical Immunology, Alexandrovska University Hospital, Medical University Sofia, Sofia, Bulgaria Department of Clinical Hematology, Sofiamed University Hospital, Sofia, Bulgaria Department of Clinical Hematology, Sofiamed University Hospital, Sofia, Bulgaria; Department of Clinical Hematology and Laboratory of Clinical Immunology, Sofiamed University Hospital, Sofia, Bulgaria,

出版信息

J Clin Rheumatol. 2020 Mar;26(2):e49-e52. doi: 10.1097/RHU.0000000000000838.

DOI:10.1097/RHU.0000000000000838

Abstract

摘要

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Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.警惕尿酸：一名青少年特发性关节炎和遗传性黄嘌呤尿症患者出现严重的硫唑嘌呤骨髓抑制

J Clin Rheumatol. 2020 Mar;26(2):e49-e52. doi: 10.1097/RHU.0000000000000838.

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Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria.使用下一代测序技术鉴定导致II型黄嘌呤尿症的人类线粒体辅酶A合成酶基因突变

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Hereditary xanthinuria is not so rare disorder of purine metabolism.遗传性黄嘌呤尿症并非嘌呤代谢中罕见的病症。

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[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)].[血液和尿液中尿酸无法测量；黄嘌呤脱氢酶缺乏症（或遗传性黄嘌呤尿症）]

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Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.与人类黄嘌呤氧化还原酶功能紊乱及遗传性黄嘌呤尿症相关的突变。

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[Hereditary xanthinuria and molybdenum cofactor deficiency].[遗传性黄嘌呤尿症和钼辅因子缺乏症]

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[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].[黄嘌呤氧化酶缺乏症（遗传性黄嘌呤尿症），钼辅因子缺乏症]

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