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25 in total

1. Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.

Authors: Siew Le Chong; Yong Hong Ng
Journal: World J Pediatr Date: 2015-12-18 Impact factor: 2.764

Review 2. Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.

Authors: J E Seegmiller
Journal: Ann Rheum Dis Date: 1980-04 Impact factor: 19.103

3. The identification of 2,8-dihydroxyadenine, a new component of urinary stones.

Authors: H A Simmonds; K J Van Acker; J S Cameron; W Snedden
Journal: Biochem J Date: 1976-08-01 Impact factor: 3.857

4. Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism.

Authors: J E Seegmiller
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

Review 5. Factors governing urinary tract stone disease.

Authors: R W Watts
Journal: Pediatr Nephrol Date: 1989-07 Impact factor: 3.714

6. Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.

Authors: F Takeuchi; K Matsuta; T Miyamoto; S Enomoto; S Fujimori; I Akaoka; N Kamatani; K Nishioka
Journal: Hum Genet Date: 1985 Impact factor: 4.132

7. APRT deficiency: the need for early diagnosis.

Authors: Aamira Huq; Kushma Nand; Rajiv Juneja; Ingrid Winship
Journal: BMJ Case Rep Date: 2018-10-23

8. Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.

Authors: N Kamatani; S Kuroshima; C Terai; K Kawai; K Mikanagi; K Nishioka
Journal: Hum Genet Date: 1987-06 Impact factor: 4.132

9. Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

Authors: Y Hidaka; T D Palella; T E O'Toole; S A Tarlé; W N Kelley
Journal: J Clin Invest Date: 1987-11 Impact factor: 14.808

10. Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example.

Authors: Shin-Ichi Kuno; Atsuo Taniguchi; Akira Saito; Sanae Tsuchida-Otsuka; Naoyuki Kamatani
Journal: J Hum Genet Date: 2004-07-28 Impact factor: 3.172