Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency–lessons for the clinical nephrologist-Reference-Cited by-同舟云学术

Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency–lessons for the clinical nephrologist

Published:2021-04-07 Issue:6 Volume:34 Page:2147-2149
ISSN:1121-8428
Container-title:Journal of Nephrology
language:en
Short-container-title:J Nephrol

Author:

Yamazaki Keita^ORCID,Miyazawa Katsuhito,Nida Yo,Furuichi Kengo,Yokoyama Hitoshi

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

https://link.springer.com/content/pdf/10.1007/s40620-021-01042-w.pdf

Reference9 articles.

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2. Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollee G (2014) 2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism. Nucleosides Nucleotides Nucleic Acids 33:241–252. https://doi.org/10.1080/15257770.2013.853780

3. Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO (2016) Kidney disease in adenine phosphoribosyltransferase deficiency. Am J Kidney Dis 67:431–438. https://doi.org/10.1053/j.ajkd.2015.10.023

4. Kamatani N, Terai C, Kim SY, Chen CL, Yamanaka H, Hakoda M, Totokawa S, Kashiwazaki S (1996) The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era. Hum Genet 98:596–600. https://doi.org/10.1007/s004390050266

5. Bollee G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I (2010) Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol 21:679–688. https://doi.org/10.1681/ASN.2009080808

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review;Nephrology;2023-08-24

2. Foreign body granuloma with crystals, recurrent kidney stones, in a patient with adenine phosphoribosyltransferase deficiency;QJM: An International Journal of Medicine;2023-03-09