We have examined the mutational basis of adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) deficiency (MIM 102600) in a patient of Polish origin who has been passing 2,8-dihydroxyadenine (DHA) stones since birth, but has considerable residual enzyme activity in lymphocyte extracts. The five exons and flanking regions of APRT were amplified by PCR and then sequenced. A single T insertion was identified at the intron 4 splice donor site (TGgtaa to TGgttaa:IVS4+2insT) in one allele from the proband, his mother, and brother. A G-to-T transversion in exon 5 (GTC-to-TTC:c.448G>T, V150F) was identified in the other allele, and this mutation was also present in one allele from the father and the paternal grandmother. Tru91 and AvaII digestions o...
A 30-year-old woman with history of passage of stones since childhood presented with oliguria and pe...
APRT deficiency is a rare but under recognized genetic disease. Recurrent urolithiasis and DHA ...
Publisher Copyright: © 2021, The Author(s), under exclusive licence to European Society of Human Gen...
Item does not contain fulltextWe have examined the mutational basis of adenine phosphoribosyltransfe...
Adenine phosphoribosyltransferase (APRT) catalyzes the synthesis of AMP from adenine and 5-phosphori...
We describe a family of Turkish origin with adenine phosphoribosyltransferase (APRT) deficiency and ...
Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine urolithiasis and re...
Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble s...
To access publisher's full text version of this article, please click on the hyperlink in Additional...
Adenine phosphoribosyltransferase (APRT) enzyme deficiency is an important and potentially reversibl...
Complete adenine phosphoribosyl transferase (APRT) deficiency is a rare inherited metabolic disorder...
Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive purine enzyme defect ...
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive enzyme defect of p...
Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent ren...
Adenine phosphoribosyltransferase (APRT), a salvage enzyme involved in purine metabolic pathways, ha...
A 30-year-old woman with history of passage of stones since childhood presented with oliguria and pe...
APRT deficiency is a rare but under recognized genetic disease. Recurrent urolithiasis and DHA ...
Publisher Copyright: © 2021, The Author(s), under exclusive licence to European Society of Human Gen...
Item does not contain fulltextWe have examined the mutational basis of adenine phosphoribosyltransfe...
Adenine phosphoribosyltransferase (APRT) catalyzes the synthesis of AMP from adenine and 5-phosphori...
We describe a family of Turkish origin with adenine phosphoribosyltransferase (APRT) deficiency and ...
Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine urolithiasis and re...
Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble s...
To access publisher's full text version of this article, please click on the hyperlink in Additional...
Adenine phosphoribosyltransferase (APRT) enzyme deficiency is an important and potentially reversibl...
Complete adenine phosphoribosyl transferase (APRT) deficiency is a rare inherited metabolic disorder...
Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive purine enzyme defect ...
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive enzyme defect of p...
Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent ren...
Adenine phosphoribosyltransferase (APRT), a salvage enzyme involved in purine metabolic pathways, ha...
A 30-year-old woman with history of passage of stones since childhood presented with oliguria and pe...
APRT deficiency is a rare but under recognized genetic disease. Recurrent urolithiasis and DHA ...
Publisher Copyright: © 2021, The Author(s), under exclusive licence to European Society of Human Gen...