Literature DB >> 3181231

New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency.

P Jung1, E Becht, M Ziegler, R Bommert, K Bach, H J Haas.   

Abstract

2,8-Dihydroxyadenine lithiasis is rare. One case, the methods to establish the diagnosis by high performance liquid chromatography and the treatment are described.

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Year:  1988        PMID： 3181231     DOI： 10.1159/000473018

Source DB:  PubMed          Journal:  Eur Urol        ISSN： 0302-2838            Impact factor:   20.096


  1 in total

1.  Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.

Authors:  B S Gathof; A Sahota; U Gresser; J Chen; P J Stambrook; J A Tischfield; N Zöllner
Journal:  Klin Wochenschr       Date:  1990-12-30
  1 in total

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