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Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.

作者信息

Ceballos-Picot Irène, Saha Abhijeet, Arora Nimisha, Kapoor Kanika, Kaur Manpreet, Dhull Rachita Singh, Goyal Samridhi

机构信息

Laboratoire de Biochimie Métabolomique et Protéomique, Tour Lavoisier, Hôpital Universitaire Necker, Paris, France.

Division of Pediatric Nephrology, Lady Hardinge Medical College and associated Kalawati Saran Children Hospital, New Delhi, India.

出版信息

Kidney Int Rep. 2018 Dec 18;4(4):624-628. doi: 10.1016/j.ekir.2018.12.004. eCollection 2019 Apr.

DOI:10.1016/j.ekir.2018.12.004
PMID:30993240
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6451083/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0a2/6451083/42882d168c16/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0a2/6451083/aca7c000ee22/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0a2/6451083/4dd1ecb30733/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0a2/6451083/42882d168c16/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0a2/6451083/aca7c000ee22/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0a2/6451083/4dd1ecb30733/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0a2/6451083/42882d168c16/gr3.jpg

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本文引用的文献

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Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.腺嘌呤磷酸核糖转移酶缺陷症（APRTd）患者中别嘌醇和非布司他对尿 2,8-二羟腺嘌呤排泄影响的比较：一项临床试验。
Eur J Intern Med. 2018 Feb;48:75-79. doi: 10.1016/j.ejim.2017.10.007. Epub 2017 Dec 12.
2
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.腺嘌呤磷酸核糖转移酶缺乏所致二羟基腺嘌呤结石：一例报告。
Indian J Urol. 2017 Jul-Sep;33(3):246-248. doi: 10.4103/iju.IJU_419_16.
3
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
甲状旁腺细胞在慢性肾脏病继发性甲状旁腺功能亢进中的增殖。
Int J Mol Sci. 2020 Jun 18;21(12):4332. doi: 10.3390/ijms21124332.
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Rare crystalline nephropathy leading to acute graft dysfunction: a case report.罕见的结晶性肾病导致急性移植物功能障碍：病例报告。
BMC Nephrol. 2019 Nov 21;20(1):428. doi: 10.1186/s12882-019-1616-3.
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