Literature DB >> 6690680

Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.

W B Lorentz, B K Burton, A Trillo, M C Browning.   

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Year:  1984        PMID： 6690680     DOI： 10.1016/s0022-3476(84)80600-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  10 in total

1.  Clinical quiz. Elevated urinary uric acid excretion (UUAE).

Authors:  M J Schoeneman
Journal:  Pediatr Nephrol       Date:  1990-03       Impact factor: 3.714

2.  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

3.  Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant.

Authors:  Rashi Singal; Sriram Krishnamurthy; Parameswaran Narayanan; Nachiappa Ganesh Rajesh; Bharat Choudhary; Gabriella Jacomelli; Vanna Micheli
Journal:  Clin Exp Nephrol       Date:  2011-09-09       Impact factor: 2.801

4.  Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.

Authors:  Yasushi Ishida; Asako Ishimaru; Hisamichi Tauchi; Akiko Yamaguchi; Masayoshi Yokoyama; Kazuhiro Hiroi; Nobuaki Wakamatsu; Yasukazu Yamada
Journal:  Eur J Pediatr       Date:  2007-09-21       Impact factor: 3.183

5.  Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy.

Authors:  E Kerem; D Branski; E Gross-Kieselstein; H Hurvitz; A Abrahamov; Y Pollack
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

Review 6.  Acute renal failure in neonates: incidence, etiology and outcome.

Authors:  F B Stapleton; D P Jones; R S Green
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

7.  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

8.  Purine enzyme defects as a cause of acute renal failure in childhood.

Authors:  H A Simmonds; J S Cameron; T M Barratt; M J Dillon; S R Meadow; R S Trompeter
Journal:  Pediatr Nephrol       Date:  1989-10       Impact factor: 3.714

9.  Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.

Authors:  Hubert Wong; Janusz Feber; Pranesh Chakraborty; Alfred Drukker; Guido Filler
Journal:  Pediatr Nephrol       Date:  2007-10-13       Impact factor: 3.714

Review 10.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501
  10 in total

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