Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.

We report a third case of 2, 8-dihydroxyadenine stones in a child with a complete lack of the adenine salvage enzyme--adenine phosphoribosyltransferase (APRT). The propositus, a 20-month-old girl of consanguineous Arab parents, presented with multiple urinary tract infections and supposed 'uric...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Barratt, T M, Simmonds, H A, Cameron, J S, Potter, C F, Rose, G A, Arkell, D G, Williams, D I
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1979
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1545198/
https://ncbi.nlm.nih.gov/pubmed/420519
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