Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

Author:

Bollée Guillaume,Dollinger Cécile,Boutaud Lucile,Guillemot Delphine,Bensman Albert,Harambat Jérôme,Deteix Patrice,Daudon Michel,Knebelmann Bertrand,Ceballos-Picot Irène

Publisher

American Society of Nephrology (ASN)

Subject

Nephrology,General Medicine

Reference43 articles.

1. Les activités purine-phosphoribosyl transférasiques des globules rouges humains technique de dosage

2. Sahota AS Tischfield JA Kamatani N Simmonds HA : Adenine phosporibosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: The Metabolic and Molecular Bases of Inherited Disease, 8th Ed., edited by Scriver CR Baudet AL Sly WS Valle D New York, McGraw-Hill Division, 2001, pp. 2571– 2584

3. The normal metabolism of uric acid.;Cartier;Adv Nephrol Necker Hosp,1974

4. 2,8-Dihydroxyadeninuria: Laboratory Diagnosis and Therapy Control

5. Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction

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