Literature DB >> 927625

Hereditary xanthinuria: report on three patients and short review of the literature.

R A Frayha, I S Salti, A Arnaout, A Khatchadurian, S M Uthman.   

Abstract

Three patients with hereditary xanthinuria are presented and the pertinent literature is reviewed. In two siblings the disease has been asymptomatic; in the third urolithiasis has developed. Xanthine stone formation is the clinical hallmark of the disease. Hereditary xanthinuria seems to be relatively prevalent in Lebanon.

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Year:  1977        PMID： 927625     DOI： 10.1159/000180910

Source DB:  PubMed          Journal:  Nephron        ISSN： 1660-8151            Impact factor:   2.847


  6 in total

1.  Xanthinuria type I: a rare cause of urolithiasis.

Authors:  Nina Arikyants; Ashot Sarkissian; Albrecht Hesse; Thomas Eggermann; Ernst Leumann; Beat Steinmann
Journal:  Pediatr Nephrol       Date:  2006-11-09       Impact factor: 3.714

Review 2.  Uric acid as a danger signal in gout and its comorbidities.

Authors:  Kenneth L Rock; Hiroshi Kataoka; Jiann-Jyh Lai
Journal:  Nat Rev Rheumatol       Date:  2012-09-04       Impact factor: 20.543

3.  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

4.  Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.

Authors:  S K Wadman; M Duran; F A Beemer; B P Cats; J L Johnson; K V Rajagopalan; J M Saudubray; H Ogier; C Charpentier; R Berger
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

5.  Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.

Authors:  W Endres; Y S Shin; R Günther; H Ibel; M Duran; S K Wadman
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

Review 6.  Urate-induced immune programming: Consequences for gouty arthritis and hyperuricemia.

Authors:  Georgiana Cabău; Tania O Crișan; Viola Klück; Radu A Popp; Leo A B Joosten
Journal:  Immunol Rev       Date:  2019-12-19       Impact factor: 12.988
  6 in total

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