2,8-Dihydroxyadenine Urolithiasis in a Patient with Considerable Residual Adenine Phosphoribosyltransferase Activity in Cell Extracts but with Mutations in Both Copies of APRT-Reference-Cited by-同舟云学术

2,8-Dihydroxyadenine Urolithiasis in a Patient with Considerable Residual Adenine Phosphoribosyltransferase Activity in Cell Extracts but with Mutations in Both Copies of APRT

Published:2001-03 Issue:3 Volume:72 Page:260-264
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Deng Li,Yang Min,Fründ Stefan,Wessel Torsten,De Abreu Ronney A,Tischfield Jay A,Sahota Amrik

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference20 articles.

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2. Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: The nature and frequency of errors caused by Taq DNA polymerase;Chen;Mutat Res,1991

3. Purine enzymes in rheumatoid arthritis: Possible association with response to azathioprine: A pilot study;Kerstens;Ann Rheum Dis,1994

4. Determination of purines including 2,8-dihydroxyadenine in urine using capillary electrophoresis;Wessel;J Chromatogr A,2000

5. The restriction enzyme MseI applied for the detection of a possibly common mutation of the APRT locus;Gathof;Clin Invest,1992

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1. Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD;Kidney International Reports;2019-08

2. APRT deficiency: the need for early diagnosis;BMJ Case Reports;2018-10-23

3. Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation;BMC Nephrology;2014-07-01

4. 2,8-Dihydroxyadenine Urolithiasis: A Not So Rare Inborn Error of Purine Metabolism;Nucleosides, Nucleotides and Nucleic Acids;2014-04-04

5. Electrochemically activated carbon fiber sensors as fast and sensitive adenine metabolite amperometric detectors;European Journal of Chemistry;2013-06-30