Literature DB >> 30112657

Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers.

Natasha Ng1, Amrit Kaur2, Mohan Shenoy2.   

Abstract

Entities:  

Keywords:  Allopurinol; Lesch-Nyhan syndrome; Purine metabolism

Mesh：

Substances：

Year:  2018        PMID： 30112657     DOI： 10.1007/s00467-018-4037-9

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


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  12 in total

1.  Xanthine urolithiasis.

Authors:  Vernon M Pais; Gregory Lowe; Costas D Lallas; Glenn M Preminger; Dean G Assimos
Journal:  Urology       Date:  2006-05       Impact factor: 2.649

2.  Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.

Authors:  R J Torres; C Prior; J G Puig
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2006       Impact factor: 1.381

3.  An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  W N Kelley; F M Rosenbloom; J Miller; J E Seegmiller
Journal:  N Engl J Med       Date:  1968-02-08       Impact factor: 91.245

4.  Urinary xanthine stones--a rare complications of allopurinol therapy.

Authors:  M L Greene; W Y Fujimoto; J E Seegmiller
Journal:  N Engl J Med       Date:  1969-02-20       Impact factor: 91.245

5.  Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.

Authors:  Przemysław Sikora; Monika Pijanowska; Marek Majewski; Beata Bieniaś; Halina Borzecka; Małgorzata Zajczkowska
Journal:  Pediatr Nephrol       Date:  2006-05-24       Impact factor: 3.714

6.  Renal xanthine stone in Lesch-Nyhan syndrome treated with allopurinol.

Authors:  A Ogawa; K Watanabe; N Minejima
Journal:  Urology       Date:  1985-07       Impact factor: 2.649

7.  Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.

Authors:  Sarah Cherian; Charles H Crompton
Journal:  Pediatr Nephrol       Date:  2005-10-21       Impact factor: 3.714

8.  The diagnosis of HPRT deficiency in the 21st century.

Authors:  R J Torres; J G Puig
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2008-06       Impact factor: 1.381

9.  Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.

Authors:  Ivana Pela; Maria Alice Donati; Elena Procopio; Patrizio Fiorini
Journal:  Pediatr Nephrol       Date:  2007-08-16       Impact factor: 3.714

10.  Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  Rosa J Torres; Carmen Prior; Juan G Puig
Journal:  Metabolism       Date:  2007-09       Impact factor: 8.694
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  2 in total

1.  The Study on the Clinical Phenotype and Function of HPRT1 Gene.

Authors:  Miao Guo; Yucai Chen; Longlong Lin; Yilin Wang; Anqi Wang; Fang Yuan; Chunmei Wang; Simei Wang; Yuanfeng Zhang
Journal:  Child Neurol Open       Date:  2022-07-19

Review 2.  Genetics of kidney stone disease.

Authors:  Sarah A Howles; Rajesh V Thakker
Journal:  Nat Rev Urol       Date:  2020-06-12       Impact factor: 14.432
  2 in total

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