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

Author:

Pela Ivana,Donati Maria Alice,Procopio Elena,Fiorini Patrizio

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Jones DP, Chesney RW (1999) Tubular function. In: Barrat TM, Avner ED, Harmon WE (eds) Pediatric nephrology, 2nd edn. Lippincott Williams & Wilkins, Philadelphia, pp 59–82

2. Jinnah H, Friedmann T (2001) Lesch-Nyhan disease and its variants. In: Scriver CR (ed) The metabolic and molecular bases of inherited disease. 8th edn McGraw-Hill, New York, pp 2537–2559

3. Mak BS, Chi C-S, Tsai C-R, Lee W-J, Lin H-Y (2000) New mutations of the HPRT gene in Lesch-Nyhan syndrome. Pediatr Neurol 23:332–335

4. Hersh JH, Page T, Hand ME, Seegmiller EJ, Nyhan WL, Weisskopf B (1986) Clinical correlations in partial hypoxanthine-guanine-phosphoribosyl-transferase deficiency. Pediatr Neurol 2:302–304

5. Sikora P, Pijanowska M, Majewski M, Bienias B, Borzecka H, Zajaczkowska M (2006) Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. Pediatr Nephrol 21:1045–1047

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