Literature DB >> 30569312

Renal stone and chronic kidney failure associated with hypouricemia: Answers.

Gulsah Kaya Aksoy1, Mustafa Koyun2, Kimiyoshi Ichida3, Elif Comak2, Sema Akman2.   

Abstract

Entities:  

Keywords:  Hereditary xanthinuria; Intronic mutation; Renal transplantation

Year:  2018        PMID： 30569312     DOI： 10.1007/s00467-018-4170-5

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


× No keyword cloud information.
  11 in total

1.  Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

Authors:  Dganit Dinour; Nicola K Gray; Liat Ganon; Andrew J S Knox; Hanna Shalev; Ben-Ami Sela; Susan Campbell; Lindsay Sawyer; Xinhua Shu; Evgenia Valsamidou; Daniel Landau; Alan F Wright; Eliezer J Holtzman
Journal:  Nephrol Dial Transplant       Date:  2011-08-02       Impact factor: 5.992

2.  Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.

Authors:  K Ichida; T Matsumura; R Sakuma; T Hosoya; T Nishino
Journal:  Biochem Biophys Res Commun       Date:  2001-04-20       Impact factor: 3.575

3.  Hereditary xanthinuria presenting in infancy with nephrolithiasis.

Authors:  T O Carpenter; R L Lebowitz; D Nelson; S Bauer
Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

4.  Acute renal failure due to xanthine stones.

Authors:  M G Bradbury; M Henderson; J T Brocklebank; H A Simmonds
Journal:  Pediatr Nephrol       Date:  1995-08       Impact factor: 3.714

5.  A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi.

Authors:  Yutaka Fujiwara; Yoshikazu Kawakami; Yoshihiko Shinohara; Kimiyoshi Ichida
Journal:  Intern Med       Date:  2012-07-15       Impact factor: 1.271

6.  Modern diagnostic approach to hereditary xanthinuria.

Authors:  Martin Mraz; Olha Hurba; Josef Bartl; Zdenek Dolezel; Anthony Marinaki; Lynette Fairbanks; Blanka Stiburkova
Journal:  Urolithiasis       Date:  2014-11-06       Impact factor: 3.436

7.  XDH gene mutation is the underlying cause of classical xanthinuria: a second report.

Authors:  D Levartovsky; A Lagziel; O Sperling; U Liberman; M Yaron; T Hosoya; K Ichida; H Peretz
Journal:  Kidney Int       Date:  2000-06       Impact factor: 10.612

8.  [Recurrent urinary lithiasis revealing hereditary xanthinuria].

Authors:  Afef Bahlous; Manef Gasmi; Amira Mohsni; Jaouida Abdelmoula
Journal:  Presse Med       Date:  2007-05-04       Impact factor: 1.228

9.  Clinical and functional characterization of URAT1 variants.

Authors:  Velibor Tasic; Ann Marie Hynes; Kenichiro Kitamura; Hae Il Cheong; Vladimir J Lozanovski; Zoran Gucev; Promsuk Jutabha; Naohiko Anzai; John A Sayer
Journal:  PLoS One       Date:  2011-12-16       Impact factor: 3.240

10.  Xanthine urolithiasis: Inhibitors of xanthine crystallization.

Authors:  Felix Grases; Antonia Costa-Bauza; Joan Roig; Adrian Rodriguez
Journal:  PLoS One       Date:  2018-08-29       Impact factor: 3.240
View more
  2 in total

Review 1.  Hypouricemia: what the practicing rheumatologist should know about this condition.

Authors:  Carlos Pineda; Carina Soto-Fajardo; Jaime Mendoza; Jessica Gutiérrez; Hugo Sandoval
Journal:  Clin Rheumatol       Date:  2019-10-24       Impact factor: 2.980

2.  Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.

Authors:  Zhaowei Zhou; Ke Wang; Juan Zhou; Can Wang; Xinde Li; Lingling Cui; Lin Han; Zhen Liu; Wei Ren; Xuefeng Wang; Keke Zhang; Zhiqiang Li; Dun Pan; Changgui Li; Yongyong Shi
Journal:  Mol Genet Genomic Med       Date:  2019-05-26       Impact factor: 2.183
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.