Page last updated: 2024-08-26

2,8-dihydroxyadenine and adenine

2,8-dihydroxyadenine has been researched along with adenine in 144 studies

*Adenine: A purine base and a fundamental unit of ADENINE NUCLEOTIDES. [MeSH]

Research

Studies (144)

Timeframe	Studies, this research(%)	All Research%
pre-1990	50 (34.72)	18.7374
1990's	46 (31.94)	18.2507
2000's	20 (13.89)	29.6817
2010's	24 (16.67)	24.3611
2020's	4 (2.78)	2.80

Authors

Authors	Studies
Daudon, M; Graveleau, D; Protat, MF; Reveillaud, RJ; Vincens, A	1
Ciompi, ML; Lucacchini, A; Mazzoni, MR; Segnini, D	1
Cameron, JS; Simmonds, HA; Snedden, W; Van Acker, KJ	1
Ceballos-Picot, I; Daudon, M; Hamet, M; Kamoun, P; Perignon, JL	1
Sahota, AS; Simmonds, H; Van Acker, KJ	1
Maddocks, JL	1
Addison, GM; Ward, ID	1
Laxdal, T	1
Fye, KH; Gelb, AB; Hancock, DC; Sahota, AS; Sibley, RK; Sparks, JW; Tischfield, JA	1
Higashihara, E; Nutahara, K; Oshi, M	1
Ikeda, T; Iwagaki, H; Katsuoka, Y; Miyakita, H; Shiramizu, M	1
Behzadian, MA; Chen, J; Ravindra, R; Sahota, A; Stambrook, PJ; Takeuchi, H; Tischfield, JA	1
Komatz, Y; Ohara, T; Osawa, O	1
Simmonds, HA; Van Acker, KJ	1
Igarashi, S; Ishidate, T; Kamatani, N	1
Friedlander, L; Hinton, DM; Hurst, VJ; McCaskey, PC; Rigsby, WE	1
Gresser, U; Zöllner, N	1
Hakoda, M; Kamatani, N; Kuroshima, S; Nakashe, S; Take, H; Yamanaka, H	1
Leusmann, DB; Schmidt, G	1
Champion, G; Coupris, L; Duverne, C; Ratajczak, A; Varlet, F	2
Hosaka, M; Kinoshita, Y; Kitami, K	1
Abe, S; Hayasaka, K; Koyama, H; Kudoh, M; Kurosu, S; Matsushita, K; Narisawa, K; Okada, G; Tada, K	1
Butz, M; Hönecke, K	1
Barratt, TM; Cameron, JS; Dillon, MJ; Meadow, SR; Simmonds, HA; Trompeter, RS	1
Kamatani, N; Kitamura, M; Kojima, T; Nishina, T; Nishioka, K	2
Lamontagne, AE	1
Gleeson, MJ; Griffith, DP	1
Maddocks, JL; Reed, T	1
Kataoka, K; Kohri, K; Matsuura, T; Tsujihashi, H; Uejima, S; Uemura, T	1
Finley, K; Glicklich, D; Gruber, HE; Karwa, G; Matas, AJ; Salem, C; Seegmiller, JE; Soberman, R; Tellis, VA	1
Brandt, NJ; Christensen, E; Laxdal, T	1
Koeda, T; Koizumi, F; Oura, H; Wakaki, K; Yokozawa, T	1
Classen, A; Doppler, W; Hesse, A; Miersch, WD; Thon, A	1
Bach, K; Becht, E; Bommert, R; Haas, HJ; Jung, P; Ziegler, M	1
Ruopuro, ML; Usenius, JP; Usenius, R	2
Kamatani, N; Nishioka, K; Sonoda, T	1
Simmonds, HA	2
Clinton, CW; Oldroyd, NO; Osborne, CA	1
Kamatani, N; Kanayama, H; Nishioka, K; Tatara, K	1
Hirano, S; Miyamoto, T; Nishida, Y	1
Ebina, K; Hirano, S; Morita, T; Someno, T	1
Frensilli, FJ; Manyak, MJ; Miller, HC	1
Kamatani, N; Kuroshima, S; Mikanagi, K; Nishioka, K; Terai, C	1
Akaoka, I; Fujimori, S; Kamatani, N; Kaneko, K; Nishida, Y; Nishioka, K; Takeuchi, F; Tatara, K; Tofuku, Y; Yamanaka, H	1
Akaoka, I; Fujimori, S; Kamatani, N; Nishioka, K; Sakamoto, K; Yamanaka, H	1
Koizumi, F; Oura, H; Yokozawa, T	1
Akaoka, I; Enomoto, S; Fujimori, S; Kamatani, N; Matsuta, K; Miyamoto, T; Nishioka, K; Takeuchi, F	1
Horii, A; Ito, T; Maekawa, M; Sugimoto, T; Yasumoto, R	1
Berényi, M; Szönyi, P; Tóth, J	1
Chung, TG; Kanazawa, I; Saito, A; Takeuchi, N	1
Oura, H; Yokozawa, T; Zheng, PD	1
Foster, JG; Glenn, JF; Morgan, JW; Witten, FR	1
Kishi, T; Nakamoto, T; Nakatsu, H; Nihira, H; Sakura, N; Usui, T	1
Cartier, P; Hamet, M; Perignon, JL	1
Doppler, W; Joost, J	1
Barratt, TM; Dillon, MJ; Greenwood, MC; Metreweli, C; Pincott, JR; Simmonds, HA	1
Noro, T; Ogiwara, M; Okamura, M	1
Cameron, JS; Dillon, MJ; Farebrother, DA; Pincott, JR; Simmons, HA; Warren, DJ	1
Churchill, DN; Dow, D; Gault, MH; Penney, H; Simmonds, HA; Snedden, W	1
Fujisawa, Y; Minoda, K; Nishioka, K; Ohmori, A; Sakamoto, K; Yamanaka, H	1
de Verdier, CH; Ericson, A; Groth, T; Niklasson, F	1
Kiyohara, H; Kotake, T; Kuroda, M; Miki, T; Nakamura, T; Sonoda, T; Takemoto, M; Usami, M	1
Barratt, TM; Cameron, JS; Dillon, M; Sahota, A; Simmonds, HA; Van Acker, KJ; Webster, DR	1
Cartier, P; Hamet, M; Perignon, JL; Vincens, A	1
Konishi, N; Takeshita, K; Yasui, H	1
Fujita, K; Kambayashi, T; Kawabe, K; Nakanishi, T; Suzuki, K; Tajima, A	1
Boyadjiev, SA; Chen, J; Gault, MH; Sahota, A; Tischfield, JA	1
Bye, S; Chen, J; Duley, J; Mallmann, R; Sahota, A; Simmonds, HA; Tischfield, JA	1
Daudon, M; Deland, E; Gagné, ER; Nawar, T; Noël, LH	1
Hesse, A; Klocke, K; Schaefer, RM; Winter, P	1
Barcelo, P; Laguna, P; Rousaud, A; Vila, R; Wuhl, O	1
Chen, J; Fye, KH; Gelb, AB; Hancock, DC; Sahota, A; Sibley, RK; Sparks, JW; Tischfield, JA	1
Fujita, J; Kaneko, Y; Takeuchi, H; Yoshida, O	1
Fujita, J; Kaneko, Y; Nakayama, H; Takenawa, J; Takeuchi, H; Yoshida, O	1
Kidouchi, K; Ohba, S; Sumi, S; Wada, Y	1
Bader, C; Daudon, M; Estepa-Maurice, L; Hennequin, C; Lacour, B; Marfisi, C	1
Boivin, G; Chen, J; Davies, PM; Engle, SJ; Sahota, A; Simmonds, HA; Stambrook, PJ; Stockelman, MG; Tischfield, JA; Ying, MY; Yum, MN	1
Adam, T; Mazácová, H; Sevcík, J	1
Hakoda, M; Kamatani, N; Kashiwazaki, S; Okai, M; Takahashi, F; Terai, C; Yamanaka, H	1
Assmann, KJ; De Abreu, RA; de Jong, DJ; Dijkman, HB; Huysmans, FT; Monnens, LA; van Liebergen, FJ	1
Melton, DW; Redhead, NJ; Selfridge, J; Wu, CL	1
Kamatani, N	1
Arvis, G; Bellin, J; Conort, P; Fompeydie, D; Rechke, JP; Thomas, J	1
Kawamura, K; Kobayashi, S; Kuhara, T; Suzuki, K; Tsugawa, R	1
Arnadottir, M; Asmundsson, P; Hardarson, S; Laxdal, T	1
Fujii, M; Hosooka, T; Inagaki, K; Kida, K; Murakami, K; Muraoka, A; Suehiro, I; Ueno, H	1
Brown, HA	1
Taniguchi, A	2
Toma, H; Yagisawa, T	1
Safranow, K	1
Fujito, A; Imaide, Y; Koga, K; Ohne, T; Uchida, M	1
Kamatani, N; Toma, H; Yagisawa, T; Yamazaki, Y	1
Deng, L; Evan, AP; Liang, L; Raikwar, N; Sahota, A; Shao, C; Stambrook, PJ; Tischfield, JA; Wang, L; Yang, M	1
Fruend, S; Hempel, G; Lanvers, C; Wessel, T	1
Funato, T; Ideguchi, H; Ioritani, N; Kaku, M; Matsuki, R; Nishiyama, Y; Ono, J; Sasaki, T; Yoshida, K	1
De Abreu, RA; Deng, L; Fründ, S; Sahota, A; Tischfield, JA; Wessel, T; Yang, M	1
Bledsoe, SB; Connors, BA; Deng, L; Evan, AP; Fineberg, NS; Grynpas, MD; Liang, L; Sahota, A; Shao, C; Stambrook, PJ; Tischfield, JA; Youzhi, S	1
Edvardsson, V; Hjaltadottir, G; Laxdal, T; Olafsson, I; Palsson, R	1
Gröbner, W; Walter-Sack, I	1
Deng, L; McAteer, JA; Raikwar, N; Sahota, A; Stambrook, PJ; Tischfield, JA; Wang, L; Yang, M	1
Bledsoe, SB; Deng, L; Evan, AP; Glass, D; Sahota, A; Stambrook, PJ; Tischfield, JA; Tzortzaki, EG; Yang, M	1
Shiba, M; Shimizu, K; Takatera, H	1
Samuell, C; Stower, M; Wilkinson, H	1
Iulek, J; Silva, CH; Silva, M; Thiemann, OH	1
Ioritani, N; Kamatani, N; Kuno, S; Machida, T; Mita, M; Taniguchi, A; Terai, C; Tsuchida, S; Yamanaka, H	1
Innami, S; Koguchi, H; Koguchi, T; Maekawa, A; Nakajima, H; Tadokoro, T; Takano, S; Yamamoto, Y	1
Bocquet, JP; Daudon, M; Hoffmann, M; Le Monies de Sagazan, H; Talaszka, A	1
Arnadottir, M; Halldorsdottir, B; Laxdal, T	1
Chen, J; Chin, KV; Deng, L; Liang, L; McAteer, JA; Sahota, A; Selvanayagam, ZE; Tischfield, J; Vittal, R	1
Diculescu, VC; Oliveira-Brett, AM; Piedade, JA	1
Aizawa, R; Hori, M; Ozaki, H; Tamura, M	1
Bledsoe, SB; Capizzi, S; Chen, J; Chen, Y; Deng, L; Evan, AP; Sahota, A; Tischfield, JA; Yang, M	1
Boelkins, M; Broviac, J; Cornell, LD; Fidler, ME; Milliner, DS; Nasr, SH; Sethi, S	1
Affum, AO; Brajter-Toth, A; Kathiwala, M	1
Abou El-Nour, KM; Brajter-Toth, A; Cohen-Shohet, R; Kathiwala, M	1
Ben-Dov, IZ; Shuvy, M	1
Ichikawa, K; Kamoda, T; Nozue, H; Saitoh, H; Taniguchi, A	1
Bensman, A; Bollée, G; Ceballos-Picot, I; Daudon, M; Harambat, J; Knebelmann, B	1
Markowitz, GS; Moritz, MJ; Sharma, SG	1
Houston, DM; Mendonca, SZ; Moore, AE; Taylor, JA	1
Arias, SC; Barlette, GP; Borges, RL; Camara, NO; de Almeida, DC; Fanelli, C; Fujihara, CK; Machado, FG; Malheiros, DM; Okabe, C; Zatz, R	1
Furrow, E; Lulich, JP; Osborne, CA; Pfeifer, RJ	1
Hemmilä, U; Kaartinen, K; Kouri, T; Mäkelä, S; Räisänen-Sokolowski, A; Salmela, K	1
Haba, T; Koike, H; Yamaguchi, S	1
Al-Rushaidan, S; Francis, I; George, SA; Nampoory, MRN; Soonowala, D	1
Agustsdottir, IM; Edvardsson, VO; Eiriksson, FF; Hardarson, HK; Kamble, NR; Oddsdottir, S; Palsson, R; Runolfsdottir, HL; Sigurdsson, BB; Sigurdsson, ST; Thorsteinsdottir, M; Thorsteinsdottir, UA	1
Kimura, T; Kurosawa, A; Nanmoku, K; Shimizu, T; Shinzato, T; Yagisawa, T	1
Edvardsson, VO; Eiriksson, F; Goldfarb, DS; Oddsdottir, GS; Palsson, R; Runolfsdottir, HL; Sch Agustsdottir, IM; Thorsteinsdottir, M; Thorsteinsdottir, UA	1
Bazin, D; Daudon, M; Jungers, P; Williams, JC	1
Bass, P; Dupont, P; Moochhala, S; Oomatia, A	1
Agustsdottir, IM; Edvardsson, VO; Indridason, OS; Palsson, R; Runolfsdottir, HL	1
Berrettini, A; Daudon, M; de Liso, F; Fogazzi, GB; Garigali, G; Marra, G; Rizzo, V	1
Bierau, J; Garbade, SF; Haas, D; Hauke, J; Hoffmann, GF; Klinke, G; Langhans, CD; Monostori, P; Okun, JG; Richter, S	1
Chan, IHS; Kwok, JSS; Lau, NKC; Ng, KS; Ng, SKW	1
Bagai, S; Bansal, B; Khullar, D	1
Anders, HJ; Boor, P; Djudjaj, S; Edvardsson, VO; Floege, J; Foresto-Neto, O; Hardarson, S; Jahnen-Dechent, W; Klinkhammer, BM; Kunter, U; Moeller, MJ; Mulay, SR; Palsson, R; Thorsteinsdottir, M; Wiech, T	1
Edvardsson, VO; Goldfarb, DS; Ketteridge, D; Lin, TL; Michael, M; Palsson, R; Rich, PR; Runolfsdottir, HL; Sayer, JA	1
Chen, J; Cheng, Y; Guo, L; Wang, M; Wang, R	1
Boor, P; Buhl, EM; Dehairs, J; Jankowski, J; Klinkhammer, BM; Krueger, K; Lebherz, C; Lehrke, M; Marx, N; Moellmann, J; Noels, H; Swinnen, JV; Wong, DWL	1

Reviews

18 review(s) available for 2,8-dihydroxyadenine and adenine

Article	Year
[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases]. Zeitschrift fur Urologie und Nephrologie, 1990, Volume: 83, Issue:7 Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Humans; Kidney Calculi; Male; Pedigree; Purine-Pyrimidine Metabolism, Inborn Errors; X-Ray Diffraction	1990
[A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase]. Hinyokika kiyo. Acta urologica Japonica, 1990, Volume: 36, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Erythrocytes; Female; Humans; Japan; Pentosyltransferases; Ureteral Calculi	1990
[A case of 2,8-dihydroxyadenine stones with a partial deficiency of adenine phosphoribosyltransferase]. Hinyokika kiyo. Acta urologica Japonica, 1988, Volume: 34, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Humans; Kidney Calculi; Pentosyltransferases	1988
2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant. The Quarterly journal of medicine, 1988, Volume: 68, Issue:258 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Humans; Kidney Calculi; Kidney Failure, Chronic; Kidney Transplantation; Pentosyltransferases; Recurrence	1988
Etiopathogenesis of uncommon canine uroliths. Xanthine, carbonate, drugs, and drug metabolites. The Veterinary clinics of North America. Small animal practice, 1986, Volume: 16, Issue:2 Topics: Adenine; Animals; Calcium Carbonate; Dog Diseases; Dogs; Oxypurinol; Sulfonamides; Tetracycline; Triamterene; Urinary Calculi; Xanthines	1986
[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]. Nihon Jinzo Gakkai shi, 1994, Volume: 36, Issue:10 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Crystallization; Homozygote; Humans; Kidney Diseases; Male; Urinary Calculi	1994
[Two siblings with 2,8-dihydroxyadenine urolithiasis]. Hinyokika kiyo. Acta urologica Japonica, 1994, Volume: 40, Issue:12 Topics: Adenine; Adenine Phosphoribosyltransferase; Child, Preschool; Family Health; Female; Humans; Infant; Male; Urinary Calculi	1994
[2,8 dihydroxyadenine(2,8 DHA) lithiasis. Report of 3 cases]. Actas urologicas espanolas, 1994, Volume: 18, Issue:1 Topics: Adenine; Adult; Diagnosis, Differential; Female; Humans; Male; Purines; Urinary Calculi	1994
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. The Journal of urology, 1993, Volume: 149, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Heterozygote; Humans; Infant; Japan; Male; Polymerase Chain Reaction; Urinary Calculi	1993
[Adenine phosphoribosyltransferase(APRT) deficiency]. Nihon rinsho. Japanese journal of clinical medicine, 1996, Volume: 54, Issue:12 Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Allopurinol; Heterozygote; Homozygote; Humans; Kidney Failure, Chronic; Nucleic Acid Hybridization; Point Mutation; Polymerase Chain Reaction; Urinary Calculi	1996
[Adenine phosphoribosyltransferase (APRT) deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Genotype; Humans; Mutation; Purine-Pyrimidine Metabolism, Inborn Errors	1998
[2,8-Dihydroxyadenine lithiasis]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Child, Preschool; Diagnosis, Differential; Homozygote; Humans; Infant; Middle Aged; Mutation; Purine-Pyrimidine Metabolism, Inborn Errors; Urinary Calculi	1998
[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. Postepy higieny i medycyny doswiadczalnej, 1998, Volume: 52, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Kidney Failure, Chronic; Purine-Pyrimidine Metabolism, Inborn Errors; Urinary Calculi	1998
[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]. Hinyokika kiyo. Acta urologica Japonica, 1998, Volume: 44, Issue:10 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Heterozygote; Humans; Kidney Calculi	1998
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]. Nihon rinsho. Japanese journal of clinical medicine, 2008, Volume: 66, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Asian People; Genotype; Humans; Mutation; Purines; Urolithiasis	2008
Adenine phosphoribosyltransferase deficiency. Clinical journal of the American Society of Nephrology : CJASN, 2012, Volume: 7, Issue:9 Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Animals; Biomarkers; Disease Progression; Enzyme Inhibitors; Genetic Predisposition to Disease; Humans; Kidney Diseases; Metabolism, Inborn Errors; Phenotype; Predictive Value of Tests; Prognosis; Recurrence; Urolithiasis; Xanthine Dehydrogenase	2012
[A Case Report of 2,8-Dihydroxyadenine Stone]. Hinyokika kiyo. Acta urologica Japonica, 2015, Volume: 61, Issue:7 Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Metabolism, Inborn Errors; Middle Aged; Spectrophotometry, Infrared; Tomography, X-Ray Computed; Treatment Outcome; Ureteral Calculi; Urolithiasis	2015
Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review. Internal medicine (Tokyo, Japan), 2021, Aug-15, Volume: 60, Issue:16 Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Kidney Transplantation; Urolithiasis	2021

Other Studies

126 other study(ies) available for 2,8-dihydroxyadenine and adenine

Article	Year
[2,8-dihydroxyadenine lithiasis: a new case detected by infra-red analysis]. La Nouvelle presse medicale, 1979, Oct-01, Volume: 8, Issue:37 Topics: Adenine; Adenine Phosphoribosyltransferase; Child, Preschool; Humans; Kidney Calculi; Male; Spectrophotometry, Infrared	1979
Urate-binding proteins in plasma studied by affinity chromatography. Advances in experimental medicine and biology, 1979, Volume: 122B Topics: Adenine; Carrier Proteins; Chromatography, Affinity; Guanine; Humans; Indicators and Reagents; Uric Acid; Xanthines	1979
The identification of 2,8-dihydroxyadenine, a new component of urinary stones. The Biochemical journal, 1976, Aug-01, Volume: 157, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Child, Preschool; Humans; Male; Pentosyltransferases; Urinary Calculi	1976
2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease. Lancet (London, England), 1992, Apr-25, Volume: 339, Issue:8800 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Aged; Child; Female; Humans; Male; Middle Aged; Urinary Calculi	1992
2,8-Dihydroxyadenine urolithiasis. Lancet (London, England), 1992, May-23, Volume: 339, Issue:8804 Topics: Adenine; Adenine Phosphoribosyltransferase; Homozygote; Humans; Urinary Calculi	1992
2,8-Dihydroxyadenine urolithiasis. Lancet (London, England), 1992, May-23, Volume: 339, Issue:8804 Topics: Adenine; Adenine Phosphoribosyltransferase; Chromatography, Thin Layer; Humans; Luminescent Measurements; Uric Acid; Urinary Calculi	1992
2,8-Dihydroxyadenine urolithiasis. Lancet (London, England), 1992, May-23, Volume: 339, Issue:8804 Topics: Adenine; Child; Diagnosis, Differential; Humans; Uric Acid; Urinary Calculi	1992
2,8-Dihydroxyadenine crystalluria vs urolithiasis. Lancet (London, England), 1992, Jul-18, Volume: 340, Issue:8812 Topics: Adenine; Crystallization; Humans; Urinary Calculi	1992
Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis. Human pathology, 1992, Volume: 23, Issue:9 Topics: Adenine; Adenine Phosphoribosyltransferase; Crystallization; Electron Probe Microanalysis; Humans; Kidney; Kidney Failure, Chronic; Male; Microscopy, Electron; Middle Aged; Urinary Calculi	1992
[Urolithiasis in chronic renal failure with hemodialysis]. Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50 Suppl Topics: Adenine; Adult; Calcium Oxalate; Humans; Kidney Failure, Chronic; Male; Renal Dialysis; Urinary Calculi	1992
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report. Hinyokika kiyo. Acta urologica Japonica, 1992, Volume: 38, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Family Health; Genotype; Humans; Male; Urinary Calculi	1992
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus. American journal of human genetics, 1991, Volume: 48, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Genetic Carrier Screening; Heterozygote; Humans; Japan; Kidney Calculi; Lymphocytes; Male; Mutation; Nucleotides; Polymorphism, Restriction Fragment Length	1991
[Two cases of 2.8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase]. Hinyokika kiyo. Acta urologica Japonica, 1991, Volume: 37, Issue:11 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Humans; Kidney Calculi; Lithotripsy; Male; Middle Aged; Nephrectomy; Urinary Bladder Calculi; Urinary Calculi	1991
Long-term evolution of type 1 adenine phosphoribosyltransferase (APRT) deficiency. Advances in experimental medicine and biology, 1991, Volume: 309B Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Age Factors; Allopurinol; Child; Child, Preschool; Diet; Humans; Male; Purines; Urinary Calculi	1991
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. The Journal of pediatrics, 1991, Volume: 118, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Female; Genes, Recessive; Homozygote; Humans; Urinary Calculi	1991
Accumulation of 2,8 dihydroxyadenine in bovine liver, kidneys, and lymph nodes. Veterinary pathology, 1991, Volume: 28, Issue:2 Topics: Abattoirs; Adenine; Animals; Cattle; Crystallization; Electron Probe Microanalysis; Kidney; Liver; Lymph Nodes; Mass Spectrometry; Microscopy, Electron; Microscopy, Electron, Scanning; Microscopy, Polarization; Spectrophotometry, Infrared; X-Ray Diffraction	1991
Nephrolithiasis in twins with APRT-deficiency. Stones as a marker of an inborn error of metabolism. Bildgebung = Imaging, 1990, Volume: 57, Issue:3-4 Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Diseases in Twins; Humans; Kidney; Kidney Calculi; Male; Pedigree; Recurrence; Ultrasonography	1990
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APARTQ0) leading to 2,8-dihydroxyadenine urolithiasis. Human genetics, 1990, Volume: 85, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; B-Lymphocytes; Blotting, Southern; Child, Preschool; Genetic Carrier Screening; Genotype; Humans; Male; Oligonucleotide Probes; Pedigree; Polymerase Chain Reaction; T-Lymphocytes; Urinary Calculi	1990
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]. Chirurgie pediatrique, 1990, Volume: 31, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Amino Acid Metabolism, Inborn Errors; Child; Humans; Infant; Lithotripsy; Male; Urinary Calculi	1990
Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT. Enzyme, 1987, Volume: 37, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Child, Preschool; Erythrocytes; Female; Heterozygote; Hot Temperature; Humans; Kinetics; Middle Aged; Pedigree; Pentosyltransferases; Phosphoribosyl Pyrophosphate; Urinary Calculi	1987
[2,8-dihydroxyadenine urinary calculus: the significance of exact physical calculus analysis]. Der Urologe. Ausg. A, 1989, Volume: 28, Issue:6 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Chromatography, High Pressure Liquid; Erythrocytes; Female; Humans; Kidney Calculi; Urography; X-Ray Diffraction	1989
Purine enzyme defects as a cause of acute renal failure in childhood. Pediatric nephrology (Berlin, Germany), 1989, Volume: 3, Issue:4 Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Child; Child, Preschool; Creatinine; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Infant; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid	1989
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]. Chirurgie pediatrique, 1989, Volume: 30, Issue:6 Topics: Adenine; Child; Diagnosis, Differential; Humans; Infant; Kidney Calculi; Male; Metabolism, Inborn Errors; Spectrophotometry; Ultrasonography	1989
Reversed-phase high-performance liquid-chromatography of 2,8-dihydroxyadenine in serum and urine with electrochemical detection. Clinica chimica acta; international journal of clinical chemistry, 1989, Apr-28, Volume: 181, Issue:1 Topics: Adenine; Chromatography, High Pressure Liquid; Electrochemistry; Humans	1989
2,8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States. The Journal of urology, 1989, Volume: 142, Issue:2 Pt 1 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; United States; Ureteral Calculi	1989
Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. The Journal of urology, 1989, Volume: 142, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Japan; Pentosyltransferases; Urinary Calculi	1989
Differentiation of uric acid from dihydroxyadenine stones. Lancet (London, England), 1987, Dec-19, Volume: 2, Issue:8573 Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Luminescent Measurements; Uric Acid; Urinary Calculi	1987
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals. Journal of inherited metabolic disease, 1987, Volume: 10, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Child, Preschool; Erythrocytes; Female; Gas Chromatography-Mass Spectrometry; Humans; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors	1987
Early changes of proximal tubules in the kidney of adenine-ingesting rats, with special reference to biochemical and electron microscopic studies. Nihon Jinzo Gakkai shi, 1988, Volume: 30, Issue:3 Topics: Acid Phosphatase; Adenine; Alkaline Phosphatase; Animals; Kidney Tubules, Proximal; Male; Rats; Rats, Inbred Strains	1988
2,8-Dihydroxyadeninuria: laboratory diagnosis and therapy control. Urologia internationalis, 1988, Volume: 43, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Chemistry, Physical; Child; Circadian Rhythm; Crystallization; Erythrocytes; Female; Hemolysis; Humans; Kidney Calculi; Male; Time Factors	1988
New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency. European urology, 1988, Volume: 14, Issue:6 Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Chromatography, High Pressure Liquid; Female; Humans; Kidney Calculi; Pentosyltransferases	1988
[Are urate calculi always urates?]. Duodecim; laaketieteellinen aikakauskirja, 1988, Volume: 104, Issue:20 Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Male; Middle Aged; Pedigree; Pentosyltransferases; Uric Acid; Urinary Calculi	1988
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. The Journal of urology, 1988, Volume: 140, Issue:6 Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Japan; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Surveys and Questionnaires; Urinary Calculi	1988
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman. British journal of urology, 1988, Volume: 62, Issue:6 Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Female; Finland; Humans; Middle Aged; Pentosyltransferases; Urinary Calculi	1988
2,8-Dihydroxyadenine lithiasis--epidemiology, pathogenesis and therapy. Verhandlungen der Deutschen Gesellschaft fur Innere Medizin, 1986, Volume: 92 Topics: Adenine; Adenine Phosphoribosyltransferase; Cross-Sectional Studies; Female; Humans; Kidney Calculi; Male; Pentosyltransferases	1986
Liquid chromatography with multichannel ultraviolet detection used for studying disorders of purine metabolism. Clinical chemistry, 1987, Volume: 33, Issue:11 Topics: Adenine; Allopurinol; Chromatography, High Pressure Liquid; Humans; Hypoxanthine; Hypoxanthines; Inosine; Oxypurinol; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Spectrophotometry, Ultraviolet; Uric Acid; Uridine; Xanthine; Xanthines	1987
[Three families with 2,8-dihydroxyadenine urolithiasis having different genetic abnormalities]. Nihon Hinyokika Gakkai zasshi. The japanese journal of urology, 1986, Volume: 77, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Humans; Middle Aged; Pedigree; Urinary Calculi	1986
A mutant adenine phosphoribosyltransferase in 2,8-dihydroxyadenine urolithiasis. Archives of internal medicine, 1986, Volume: 146, Issue:10 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Erythrocytes; Genetic Variation; Humans; Kidney Calculi; Male; Pentosyltransferases	1986
2,8-Dihydroxyadenine lithiasis. Clinica chimica acta; international journal of clinical chemistry, 1986, Oct-31, Volume: 160, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Diagnosis, Differential; Humans; Kidney Calculi; Uric Acid	1986
[A case of 2,8-dihydroxy adenine renal stones with familial inheritance of partial deficiency of adenine phosphoribosyltransferase]. Nihon Hinyokika Gakkai zasshi. The japanese journal of urology, 1986, Volume: 77, Issue:7 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Genetic Diseases, Inborn; Humans; Kidney Calculi; Male; Pentosyltransferases	1986
2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States. The Journal of urology, 1987, Volume: 137, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Middle Aged; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; United States; Urinary Calculi	1987
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. Human genetics, 1987, Volume: 75, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Aged; Child, Preschool; Female; Gene Frequency; Heterozygote; Humans; Infant; Japan; Male; Middle Aged; Pentosyltransferases; Urinary Calculi	1987
Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase. Metabolism: clinical and experimental, 1985, Volume: 34, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Cells, Cultured; Drug Resistance; Erythrocytes; Female; Humans; Leukocyte Count; Male; Middle Aged; Pentosyltransferases; Purines; T-Lymphocytes; Thioguanine; Urinary Calculi	1985
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies. Human genetics, 1985, Volume: 71, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Child; Child, Preschool; Clinical Enzyme Tests; Female; Hot Temperature; Humans; Infant; Japan; Kinetics; Male; Middle Aged; Mutation; Pentosyltransferases; T-Lymphocytes; Urinary Calculi	1985
2,8-Dihydroxyadenine urolithiasis induced by dietary adenine in rats. Nihon Jinzo Gakkai shi, 1985, Volume: 27, Issue:3 Topics: Adenine; Animals; Diet; Male; Rats; Rats, Inbred Strains; Urinary Calculi	1985
Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis. Human genetics, 1985, Volume: 71, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Clinical Enzyme Tests; Erythrocytes; Humans; Japan; Lesch-Nyhan Syndrome; Pentosyltransferases; Urinary Calculi	1985
[A case of right ureteral stone with complete deficiency of adenine phosphoribosyltransferase]. Hinyokika kiyo. Acta urologica Japonica, 1985, Volume: 31, Issue:8 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Blood Chemical Analysis; Humans; Male; Pentosyltransferases; Tomography, X-Ray Computed; Ureteral Calculi	1985
A rare enzyme deficiency causing formation of 2,8-dihydroxyadenine (purine body) calculi. International urology and nephrology, 1985, Volume: 17, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child, Preschool; Female; Humans; Kidney Calculi; Kidney Calices; Pentosyltransferases	1985
Determination of 2,8-dihydroxyadenine in urine by high-performance anion-exchange liquid chromatography. Journal of chromatography, 1983, Oct-14, Volume: 277 Topics: Adenine; Adenine Phosphoribosyltransferase; Anion Exchange Resins; Chromatography, High Pressure Liquid; Humans; Kidney Calculi; Kidney Transplantation; Spectrophotometry, Ultraviolet	1983
Biochemical features induced by adenine feeding in rats. Polyuria, electrolyte disorders, and 2,8-dihydroxyadenine deposits. Journal of nutritional science and vitaminology, 1984, Volume: 30, Issue:3 Topics: Adenine; Aldosterone; Animals; Calcium; Diet; Kidney; Male; Phosphates; Polyuria; Potassium; Rats; Rats, Inbred Strains; Sodium; Water-Electrolyte Imbalance	1984
2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States. The Journal of urology, 1983, Volume: 130, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child; Heterozygote; Homozygote; Humans; Male; Metabolism, Inborn Errors; Pentosyltransferases; Purines; United States; Urinary Calculi	1983
Complete deficiency of adenine phosphoribosyl transferase: report of a new family. The Journal of urology, 1983, Volume: 130, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Child, Preschool; Female; Humans; Male; Pentosyltransferases; Urinary Calculi	1983
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]. La Nouvelle presse medicale, 1980, Jun-07, Volume: 9, Issue:25 Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Allopurinol; Child; Child, Preschool; Erythrocytes; Female; Humans; Male; Pentosyltransferases; Urinary Calculi; Xanthine Oxidase	1980
2,8-dihydroxyadenine stone in children. Urology, 1982, Volume: 20, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Humans; Kidney Calculi; Male; Pentosyltransferases; Uric Acid; X-Ray Diffraction	1982
Renal failure due to 2,8-dihydroxyadenine urolithiasis. European journal of pediatrics, 1982, Volume: 138, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child, Preschool; Diet, Vegetarian; Erythrocytes; Female; Humans; Kidney Calculi; Kidney Failure, Chronic	1982
[2,8-Dihydroxyadeninuria: 2.8-dihydroxyadenine crystals in urinary sediment in patients with adenine-phosphoribosyltransferase deficiency]. Deutsche medizinische Wochenschrift (1946), 1982, Dec-10, Volume: 107, Issue:49 Topics: Adenine; Adenine Phosphoribosyltransferase; Child, Preschool; Erythrocytes; Female; Humans; Kidney Failure, Chronic; Pentosyltransferases; Ureteral Calculi; Ureteral Diseases; Urinary Tract Infections	1982
Uric acid crystal-induced nephropathy: evidence for a specific renal lesion in a gouty family. The Journal of pathology, 1981, Volume: 135, Issue:2 Topics: Adenine; Adult; Animals; Child; Child, Preschool; Female; Gout; Humans; Kidney; Kidney Diseases; Swine; Uric Acid	1981
Urolithiasis due to 2,8-dihydroxyadenine in an adult. The New England journal of medicine, 1981, Dec-24, Volume: 305, Issue:26 Topics: Adenine; Adult; Allopurinol; Female; Humans; Kidney Calculi; Kidney Pelvis; Purine-Pyrimidine Metabolism, Inborn Errors; Urinary Calculi	1981
Dihydroxyadenine urolithiasis in children with partial deficiency of adenine phosphoribosyltransferase. Urologia internationalis, 1981, Volume: 36, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Child, Preschool; Female; Humans; Infant; Male; Pentosyltransferases; Urinary Calculi	1981
Plasma concentration and renal excretion of adenine and 2,8-dihydroxyadenine after administration of adenine in man. Scandinavian journal of clinical and laboratory investigation, 1980, Volume: 40, Issue:1 Topics: Adenine; Administration, Oral; Adult; Chromatography, High Pressure Liquid; Humans; Injections, Intravenous; Kidney; Male; Middle Aged	1980
[Urolithiasis composed of 2,8-dihydroxyadenine due to partial deficiency of adenine phosphoribosyltransferase. Report of a case (author's transl)]. Nihon Hinyokika Gakkai zasshi. The japanese journal of urology, 1980, Volume: 71, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Humans; Kidney Calculi; Male; Pentosyltransferases; Ureteral Calculi; Urinary Calculi	1980
Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency. Advances in experimental medicine and biology, 1980, Volume: 122A Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Child, Preschool; Creatinine; Female; Humans; Kidney; Kidney Calculi; Male; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid	1980
Complete adenine phosphoribosyltransferase (APRT) deficiency in two siblings: report of a new case. Advances in experimental medicine and biology, 1980, Volume: 122A Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child, Preschool; Female; Humans; Kidney Calculi; Male; Pedigree; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; Spectrophotometry	1980
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Human molecular genetics, 1994, Volume: 3, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Genes; Humans; Kidney Calculi; Male; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length	1994
Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis. The Clinical investigator, 1994, Volume: 72, Issue:7 Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Base Composition; Base Sequence; Child, Preschool; Female; Gene Deletion; Homozygote; Humans; Molecular Sequence Data; Mutation; Pedigree; Turkey; Urinary Calculi	1994
Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant. American journal of kidney diseases : the official journal of the National Kidney Foundation, 1994, Volume: 24, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Humans; Kidney Failure, Chronic; Kidney Transplantation; Male; Recurrence	1994
Scanning electron microscopy of 2,8-dihydroxyadenine crystals and stones. Scanning microscopy, 1993, Volume: 7, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Chromatography, High Pressure Liquid; Humans; Kidney Calculi; Male; Microscopy, Electron, Scanning; Spectrophotometry, Infrared	1993
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. Archives of internal medicine, 1993, Mar-22, Volume: 153, Issue:6 Topics: Adenine; Adenine Phosphoribosyltransferase; Heterozygote; Humans; Kidney; Kidney Calculi; Kidney Failure, Chronic; Male; Middle Aged	1993
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. Urological research, 1993, Volume: 21, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Base Sequence; DNA; Humans; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Urinary Calculi	1993
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. Journal of chromatography. B, Biomedical applications, 1995, Oct-20, Volume: 672, Issue:2 Topics: Adenine; Adenosine; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Orotic Acid; Pseudouridine; Purine-Pyrimidine Metabolism, Inborn Errors; Uracil; Xanthine; Xanthines	1995
Fourier transform infrared microscopy identification of crystal deposits in tissues: clinical importance in various pathologies. American journal of clinical pathology, 1996, Volume: 105, Issue:5 Topics: Adenine; Adult; Aged; Apatites; Biopsy; Calcium Phosphates; Child, Preschool; Crystallization; Female; Humans; Kidney; Kidney Diseases; Kidney Transplantation; Male; Microscopy; Spectrophotometry, Infrared; Spectroscopy, Fourier Transform Infrared; Tissue Distribution	1996
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. Proceedings of the National Academy of Sciences of the United States of America, 1996, May-28, Volume: 93, Issue:11 Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Animals; Erythrocytes; Fibrosis; Homozygote; Humans; Inflammation; Kidney; Kidney Calculi; Mice; Mice, Knockout; Necrosis; Recombination, Genetic; Restriction Mapping; Stem Cells	1996
A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis. Clinica chimica acta; international journal of clinical chemistry, 1996, Feb-09, Volume: 245, Issue:1 Topics: Adenine; Electrophoresis, Capillary; Humans; Hydrogen-Ion Concentration; Reference Values; Urinary Calculi	1996
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. Clinical genetics, 1995, Volume: 48, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Aged; Base Sequence; Cell Line; Chromosome Banding; DNA; Female; Humans; Male; Molecular Sequence Data; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Urinary Calculi	1995
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. The Journal of urology, 1996, Volume: 156, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Kidney Calculi; Kidney Transplantation; Male; Middle Aged; Postoperative Complications	1996
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. Human gene therapy, 1996, Aug-20, Volume: 7, Issue:13 Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Allopurinol; Animals; Blotting, Southern; Chromatography, High Pressure Liquid; Cloning, Molecular; Crystallization; Disease Models, Animal; Genotype; Humans; Hypoxanthine; Kidney; Lesch-Nyhan Syndrome; Mice; Mice, Transgenic; Polymerase Chain Reaction; Purines	1996
[A case of lithiasis caused by 2,8 dihydroxyadenine. Evolutive characteristics. Therapeutic problems]. Journal d'urologie, 1996, Volume: 102, Issue:4 Topics: Adenine; Adult; Female; Humans; Kidney Calculi; Lithotripsy; Nephrectomy; Nephrostomy, Percutaneous; Tomography, X-Ray Computed; Ureteral Calculi	1996
Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0). International journal of urology : official journal of the Japanese Urological Association, 1997, Volume: 4, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Family Health; Female; Genotype; Humans; Kidney Calculi; Male; Pedigree; Urine	1997
Acute renal failure in a middle-aged woman with 2,8-dihydroxyadeninuria. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 1997, Volume: 12, Issue:9 Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Crystallization; Female; Humans; Middle Aged	1997
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. Internal medicine (Tokyo, Japan), 1998, Volume: 37, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Alleles; Base Sequence; DNA; Female; Humans; Male; Molecular Sequence Data; Pedigree; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Recurrence; Ureteral Calculi	1998
Recurrence of 2,8-dihydroxyadenine tubulointerstitial lesions in a kidney transplant recipient with a primary presentation of chronic renal failure. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 1998, Volume: 13, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Kidney Failure, Chronic; Kidney Transplantation; Middle Aged; Nephritis, Interstitial; Recurrence	1998
Radiopaque 2,8-dihydroxyadenine lithiasis. International urology and nephrology, 1999, Volume: 31, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Kidney Calculi; Middle Aged; Radiography; Spectrum Analysis	1999
Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis. Kidney international, 2000, Volume: 58, Issue:2 Topics: Adenine; Adenine Phosphoribosyltransferase; Age Factors; Animals; Disease Models, Animal; DNA Primers; DNA, Complementary; Female; Gene Expression; Kidney; Kidney Calculi; Male; Mice; Mice, Inbred C3H; Mice, Inbred C57BL; Mice, Knockout; RNA, Messenger; Sex Characteristics	2000
Determination of purines including 2,8-dihydroxyadenine in urine using capillary electrophoresis. Journal of chromatography. A, 2000, Oct-13, Volume: 894, Issue:1-2 Topics: Adenine; Electrophoresis, Capillary; Humans; Purines; Reproducibility of Results; Sensitivity and Specificity	2000
Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system. Journal of clinical laboratory analysis, 2000, Volume: 14, Issue:6 Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Base Sequence; DNA; DNA Mutational Analysis; Female; Genotype; Heterozygote; Humans; Male; Middle Aged; Mutation; Pedigree; Polymerase Chain Reaction; Sequence Analysis, DNA; Urinary Calculi	2000
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. Molecular genetics and metabolism, 2001, Volume: 72, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Child; DNA Mutational Analysis; Exons; Humans; Lymphocytes; Male; Mutation; Urinary Calculi	2001
Sequential analysis of kidney stone formation in the Aprt knockout mouse. Kidney international, 2001, Volume: 60, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Age Factors; Animals; Female; Genotype; Kidney Calculi; Kidney Tubules, Distal; Kidney Tubules, Proximal; Male; Mice; Mice, Knockout; Microscopy, Electron, Scanning; Sex Factors; Tissue Fixation; X-Ray Diffraction	2001
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. American journal of kidney diseases : the official journal of the National Kidney Foundation, 2001, Volume: 38, Issue:3 Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Biopsy; Child; Child, Preschool; DNA Mutational Analysis; Female; Genotype; Humans; Iceland; Infant; Kidney; Kidney Calculi; Kidney Failure, Chronic; Male; Middle Aged	2001
[Hyperuricemia and gout--diagnosis]. Deutsche medizinische Wochenschrift (1946), 2002, Feb-01, Volume: 127, Issue:5 Topics: Adenine; Adult; Diagnosis, Differential; Drug-Related Side Effects and Adverse Reactions; Female; Gout; Humans; Kidney Calculi; Kidney Diseases; Male; Recurrence; Uric Acid; Xanthine	2002
Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells. Experimental nephrology, 2002, Volume: 10, Issue:5-6 Topics: Adenine; alpha Catenin; Animals; Calcium Oxalate; Cell Line; Chlorocebus aethiops; Crystallization; Cytoskeletal Proteins; DNA, Complementary; Dogs; Epithelial Cells; Gene Expression Regulation; Humans; Integrin alpha3; Integrin beta Chains; Kidney; Oligonucleotide Array Sequence Analysis; Proto-Oncogene Proteins c-sis; Reverse Transcriptase Polymerase Chain Reaction	2002
Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease. Urological research, 2003, Volume: 31, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Animals; Biological Transport; Female; Gene Dosage; Gene Expression; Genomic Imprinting; Kidney Calculi; Male; Mice; Mice, Knockout; Organic Cation Transport Proteins	2003
[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]. Hinyokika kiyo. Acta urologica Japonica, 2003, Volume: 49, Issue:8 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Humans; Kidney Calculi; Ureteral Calculi	2003
2,8-Dihydroxyadenine renal stones in a 41-year-old man. Annals of clinical biochemistry, 2004, Volume: 41, Issue:Pt 2 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Antimetabolites; Humans; Kidney Calculi; Male; Uric Acid	2004
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. Biochemistry, 2004, Jun-22, Volume: 43, Issue:24 Topics: Adenine; Adenine Phosphoribosyltransferase; Base Sequence; Cloning, Molecular; DNA Primers; Humans; Models, Molecular; Polymerase Chain Reaction; Protein Conformation; Recombinant Proteins; Urinary Calculi	2004
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. Nucleosides, nucleotides & nucleic acids, 2004, Volume: 23, Issue:8-9 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Aged; Alleles; DNA; Heterozygote; Homozygote; Humans; Japan; Male; Middle Aged; Mutation; Sequence Analysis, DNA; Urinary Calculi	2004
Dietary fiber suppresses elevation of uric acid and urea nitrogen concentrations in serum of rats with renal dysfunction induced by dietary adenine. International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition, 2004, Volume: 74, Issue:4 Topics: Adenine; Animals; Blood Urea Nitrogen; Cellulose; Chitin; Chitosan; Creatinine; Diet; Dietary Fiber; Intestinal Absorption; Jejunum; Kidney; Kidney Diseases; Leukocyte Count; Male; Organ Size; Rats; Rats, Wistar; Uric Acid; Weight Gain	2004
[Acute renal failure and 2,8-dihydroxyadeninuria]. Nephrologie, 2004, Volume: 25, Issue:7 Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Aged; Humans; Male; Recurrence; Urinary Calculi	2004
2,8-dihydroxyadeninuria: are there no cases in Scandinavia? Scandinavian journal of urology and nephrology, 2005, Volume: 39, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Heterozygote; Homozygote; Humans; Mutation; Renal Insufficiency; Scandinavian and Nordic Countries; Urinary Calculi	2005
Expression profiling of crystal-induced injury in human kidney epithelial cells. Nephron. Physiology, 2006, Volume: 103, Issue:1 Topics: Adenine; Calcium Oxalate; Cell Line; Crystallization; Epithelial Cells; Gene Expression Profiling; Humans; Kidney Calculi; Oligonucleotide Array Sequence Analysis	2006
Electrochemical behaviour of 2,8-dihydroxyadenine at a glassy carbon electrode. Bioelectrochemistry (Amsterdam, Netherlands), 2007, Volume: 70, Issue:1 Topics: Adenine; Carbon; Electrochemistry; Electrodes; Glass; Hydrogen-Ion Concentration; Molecular Structure; Osmolar Concentration; Oxidation-Reduction; Solutions	2007
Progressive renal dysfunction and macrophage infiltration in interstitial fibrosis in an adenine-induced tubulointerstitial nephritis mouse model. Histochemistry and cell biology, 2009, Volume: 131, Issue:4 Topics: Actins; Adenine; Animals; Chemokines; Chemotaxis; Collagen; Cytokines; Disease Models, Animal; Fibrosis; Kidney Tubules; Macrophages; Male; Mice; Mice, Inbred C57BL; Nephritis, Interstitial	2009
2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney. Urology, 2010, Volume: 75, Issue:4 Topics: Adenine; Age Factors; Animals; Animals, Newborn; Gene Expression Regulation, Developmental; Kidney; Mice; Microarray Analysis; Nephrolithiasis	2010
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2010, Volume: 25, Issue:6 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Crystallization; Diagnosis, Differential; Female; Genes, Recessive; Humans; Hyperoxaluria, Primary; Kidney; Kidney Diseases; Kidney Failure, Chronic; Kidney Transplantation; Male; Middle Aged; Recurrence; United States; Urinary Calculi	2010
HPLC-UV measurements of metabolites in the supernatant of endothelial cells exposed to oxidative stress. Analytical and bioanalytical chemistry, 2010, Volume: 396, Issue:5 Topics: Adenine; Animals; Aorta; Biomarkers; Cells, Cultured; Chromatography, High Pressure Liquid; Endothelial Cells; Hypoxia; Oxidative Stress; Pulmonary Artery; Pyrimidines; Swine; Ultraviolet Rays	2010
Rapid measurements of 2,8-dihydroxyadenine (2,8-DHA) with a nanostructured electrochemical sensor in 5-fold diluted supernatants of endothelial cells exposed to oxidative stress. The Analyst, 2010, Volume: 135, Issue:2 Topics: Adenine; Animals; Aorta; Carbon; Carbon Fiber; Cells, Cultured; Electrochemistry; Endothelium, Vascular; Nanotechnology; Oxidative Stress; Pulmonary Artery; Swine	2010
Acquired DHA nephropathy in rats. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2010, Volume: 25, Issue:10 Topics: Adenine; Animals; Crystallization; Kidney Diseases; Rats	2010
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. Acta paediatrica (Oslo, Norway : 1992), 2011, Volume: 100, Issue:12 Topics: Adenine; Adenine Phosphoribosyltransferase; Asian People; Child, Preschool; Humans; Lithotripsy; Male; Metabolism, Inborn Errors; Mutation; Nephritis, Interstitial; Nephrolithiasis; Recurrence; Urinary Tract Infections; Urolithiasis	2011
2,8-dihydroxyadeninuria disease. Kidney international, 2012, Volume: 82, Issue:9 Topics: Adenine; Adenine Phosphoribosyltransferase; Aged, 80 and over; Delayed Graft Function; Humans; Kidney; Kidney Transplantation; Male; Nephrolithiasis	2012
2,8-Dihydroxyadenine uroliths in a dog. Journal of the American Veterinary Medical Association, 2012, Nov-15, Volume: 241, Issue:10 Topics: Adenine; Animals; Dog Diseases; Dogs; Male; Ureteral Calculi	2012
NF-κB activation mediates crystal translocation and interstitial inflammation in adenine overload nephropathy. American journal of physiology. Renal physiology, 2013, Jul-15, Volume: 305, Issue:2 Topics: Adenine; Animals; Disease Models, Animal; Fibrosis; Granuloma; Inflammation Mediators; Kidney; Male; Nephritis, Interstitial; Nephrosclerosis; NF-kappa B; Pyrrolidines; Rats; Rats, Wistar; Thiocarbamates	2013
An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. Molecular genetics and metabolism, 2014, Volume: 111, Issue:3 Topics: Adenine; Adenine Phosphoribosyltransferase; Animals; Dogs; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Metabolism, Inborn Errors; Mutation, Missense; Urolithiasis	2014
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. Journal of the American Society of Nephrology : JASN, 2014, Volume: 25, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Allografts; Humans; Kidney Calculi; Kidney Transplantation; Male; Metabolism, Inborn Errors; Middle Aged; Risk Factors; Urolithiasis	2014
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant. Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation, 2017, Volume: 15, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Biomarkers; Biopsy; Enzyme Inhibitors; Female; Humans; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, Inborn Errors; Treatment Outcome; Urolithiasis; Xanthine Dehydrogenase	2017
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2016, Nov-15, Volume: 1036-1037 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Chromatography, High Pressure Liquid; Humans; Limit of Detection; Metabolism, Inborn Errors; Tandem Mass Spectrometry; Urinalysis; Urolithiasis	2016
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. Internal medicine (Tokyo, Japan), 2017, Volume: 56, Issue:11 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Febuxostat; Gout Suppressants; Humans; Kidney Transplantation; Male; Metabolism, Inborn Errors; Urolithiasis	2017
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. European journal of internal medicine, 2018, Volume: 48 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Aged; Allopurinol; Cross-Over Studies; Enzyme Inhibitors; Febuxostat; Female; Humans; Iceland; Kidney Calculi; Male; Metabolism, Inborn Errors; Middle Aged; Pilot Projects; Registries; Treatment Outcome; Urolithiasis	2018
Recurrence rates of urinary calculi according to stone composition and morphology. Urolithiasis, 2018, Volume: 46, Issue:5 Topics: Adenine; Adolescent; Adult; Age of Onset; Aged; Apatites; Calcium Oxalate; Child; Child, Preschool; Female; France; Humans; Infant; Infant, Newborn; Male; Middle Aged; Recurrence; Spectrophotometry, Infrared; Uric Acid; Urinary Calculi; Young Adult	2018
The Case \| Shining a light on an unusual case of chronic kidney disease. Kidney international, 2018, Volume: 93, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Aged; Biopsy; Crystallization; Humans; Kidney; Male; Metabolism, Inborn Errors; Microscopy, Polarization; Renal Insufficiency, Chronic; Urolithiasis	2018
Long-term renal outcomes of APRT deficiency presenting in childhood. Pediatric nephrology (Berlin, Germany), 2019, Volume: 34, Issue:3 Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Allopurinol; Child; Child, Preschool; Disease Progression; Female; Follow-Up Studies; Glomerular Filtration Rate; Humans; Infant; Kidney; Kidney Calculi; Male; Metabolism, Inborn Errors; Recurrence; Registries; Renal Insufficiency, Chronic; Urolithiasis; Xanthine Dehydrogenase; Young Adult	2019
A virtuous diagnostic and therapeutic roadmap triggered by a motivated and skilful urinary sediment examination. Clinica chimica acta; international journal of clinical chemistry, 2019, Volume: 492 Topics: Adenine; Humans; Kidney Diseases; Urinalysis; Urologic Diseases	2019
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation. PloS one, 2019, Volume: 14, Issue:2 Topics: Adenine; Adolescent; Adult; Aminoimidazole Carboxamide; Biomarkers; Child; Child, Preschool; Chromatography, Liquid; Female; Humans; Infant; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Quality Control; Reference Values; Ribonucleotides; Tandem Mass Spectrometry; Urea; Uridine	2019
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient. Pathology, 2019, Volume: 51, Issue:5 Topics: Adenine; Adenine Phosphoribosyltransferase; Asian People; Child, Preschool; Early Diagnosis; Humans; Kidney; Male; Metabolism, Inborn Errors; Radiography; Urinary Bladder Calculi; Urolithiasis	2019
Rare crystalline nephropathy leading to acute graft dysfunction: a case report. BMC nephrology, 2019, 11-21, Volume: 20, Issue:1 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Antimetabolites; Biopsy; Crystallization; Humans; Hydrotherapy; Kidney Transplantation; Male; Metabolism, Inborn Errors; Primary Graft Dysfunction; Urolithiasis	2019
Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy. Journal of the American Society of Nephrology : JASN, 2020, Volume: 31, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Animals; Cohort Studies; Diet; Disease Models, Animal; Female; Humans; Infant; Kidney Diseases; Male; Metabolism, Inborn Errors; Mice; Middle Aged; Urolithiasis	2020
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. Urolithiasis, 2020, Volume: 48, Issue:4 Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Child; Child, Preschool; Female; Humans; Kidney Calculi; Male; Metabolism, Inborn Errors; Middle Aged; Reproducibility of Results; Retrospective Studies; Urolithiasis; Young Adult	2020
2,8-Dihydroxyadenine-induced nephropathy causes hexosylceramide accumulation with increased mTOR signaling, reduced levels of protective SirT3 expression and impaired renal mitochondrial function. Biochimica et biophysica acta. Molecular basis of disease, 2024, Volume: 1870, Issue:1 Topics: Adenine; Animals; Fibrosis; Inflammation; Kidney; Mice; Mice, Inbred C57BL; Mitochondria; Renal Insufficiency, Chronic; Sirtuin 3; TOR Serine-Threonine Kinases	2024