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Adenine phosphoribosyltransferase deficiency

Known as: APRT Deficiency, APRTD 
An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is… 
National Institutes of Health

Related topics

Related topics

8 relations
2,8-Dihydroxyadenine UrolithiasisAPRT, TER-SERAutosomal recessive inheritanceKidney Failure

Broader (2)

Adenine PhosphoribosyltransferaseInborn Errors of Metabolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the… 
1998
1998
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency
MICHAEL G. STOCKELMAN,1 JOHN N. LORENZ,2 FROST N. SMITH,3 GREGORY P. BOIVIN,3 AMRIK SAHOTA,4 JAY A. TISCHFIELD,4 AND PETER J… 
1996
1996
A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis.
Review
1994
Review
1994
[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination].
APRT deficiency is an enzyme disorder which is inherited as an autosomal recessive trait. The use of adenine in purine metabolism… 
1992
1992
Substrate specificity of human deoxycytidine kinase toward antiviral 2',3'-dideoxynucleoside analogs.
1990
1990
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.
In the absence of adenine phosphoribosyltransferase (APRT) activity in man, adenine is oxidized by xanthine oxidase to the highly… 
1988
1988
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
We report the first patient in Finland and Scandinavia with a deficiency of adenine phosphoribosyltransferase (APRT). About 30… 
1988
1988
Adenine phosphoribosyltransferase deficiency: a simple diagnostic test.
1. A simple method for diagnosing adenine phosphoribosyltransferase (APRT) deficiency using urine is described. 2. T.l.c. of 1… 
1978
1978
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.
1. We have compared urinary purine excretion by two different methods in three separate paediatric disorders of purine metabolism… 
1977
1977
Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy.
1. Abnormal amounts of adenine, 8-hydroxyadenine and 2,8-dihydroxyadenine are found in the urine of homozygotes for APRTase… 
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