Page last updated: 2024-08-26

2,8-dihydroxyadenine and Urinary Calculi

2,8-dihydroxyadenine has been researched along with Urinary Calculi in 53 studies

Research

Studies (53)

TimeframeStudies, this research(%)All Research%
pre-199021 (39.62)18.7374
1990's24 (45.28)18.2507
2000's6 (11.32)29.6817
2010's2 (3.77)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bazin, D; Daudon, M; Jungers, P; Williams, JC1
Boelkins, M; Broviac, J; Cornell, LD; Fidler, ME; Milliner, DS; Nasr, SH; Sethi, S1
Iulek, J; Silva, CH; Silva, M; Thiemann, OH1
Ioritani, N; Kamatani, N; Kuno, S; Machida, T; Mita, M; Taniguchi, A; Terai, C; Tsuchida, S; Yamanaka, H1
Bocquet, JP; Daudon, M; Hoffmann, M; Le Monies de Sagazan, H; Talaszka, A1
Arnadottir, M; Halldorsdottir, B; Laxdal, T1
Foster, JG; Glenn, JF; Morgan, JW; Witten, FR1
Kishi, T; Nakamoto, T; Nakatsu, H; Nihira, H; Sakura, N; Usui, T1
Cartier, P; Hamet, M; Perignon, JL1
Churchill, DN; Dow, D; Gault, MH; Penney, H; Simmonds, HA; Snedden, W1
Fujisawa, Y; Minoda, K; Nishioka, K; Ohmori, A; Sakamoto, K; Yamanaka, H1
Kiyohara, H; Kotake, T; Kuroda, M; Miki, T; Nakamura, T; Sonoda, T; Takemoto, M; Usami, M1
Konishi, N; Takeshita, K; Yasui, H1
Fujita, K; Kambayashi, T; Kawabe, K; Nakanishi, T; Suzuki, K; Tajima, A1
Bye, S; Chen, J; Duley, J; Mallmann, R; Sahota, A; Simmonds, HA; Tischfield, JA1
Barcelo, P; Laguna, P; Rousaud, A; Vila, R; Wuhl, O1
Fujita, J; Kaneko, Y; Takeuchi, H; Yoshida, O1
Fujita, J; Kaneko, Y; Nakayama, H; Takenawa, J; Takeuchi, H; Yoshida, O1
Adam, T; Mazácová, H; Sevcík, J1
Hakoda, M; Kamatani, N; Kashiwazaki, S; Okai, M; Takahashi, F; Terai, C; Yamanaka, H1
Kamatani, N1
Toma, H; Yagisawa, T1
Safranow, K1
Funato, T; Ideguchi, H; Ioritani, N; Kaku, M; Matsuki, R; Nishiyama, Y; Ono, J; Sasaki, T; Yoshida, K1
De Abreu, RA; Deng, L; Fründ, S; Sahota, A; Tischfield, JA; Wessel, T; Yang, M1
Cameron, JS; Simmonds, HA; Snedden, W; Van Acker, KJ1
Ceballos-Picot, I; Daudon, M; Hamet, M; Kamoun, P; Perignon, JL1
Sahota, AS; Simmonds, H; Van Acker, KJ1
Maddocks, JL1
Addison, GM; Ward, ID1
Laxdal, T1
Fye, KH; Gelb, AB; Hancock, DC; Sahota, AS; Sibley, RK; Sparks, JW; Tischfield, JA1
Higashihara, E; Nutahara, K; Oshi, M1
Ikeda, T; Iwagaki, H; Katsuoka, Y; Miyakita, H; Shiramizu, M1
Komatz, Y; Ohara, T; Osawa, O1
Simmonds, HA; Van Acker, KJ1
Igarashi, S; Ishidate, T; Kamatani, N1
Hakoda, M; Kamatani, N; Kuroshima, S; Nakashe, S; Take, H; Yamanaka, H1
Champion, G; Coupris, L; Duverne, C; Ratajczak, A; Varlet, F1
Abe, S; Hayasaka, K; Koyama, H; Kudoh, M; Kurosu, S; Matsushita, K; Narisawa, K; Okada, G; Tada, K1
Gleeson, MJ; Griffith, DP1
Maddocks, JL; Reed, T1
Ruopuro, ML; Usenius, JP; Usenius, R2
Kamatani, N; Nishioka, K; Sonoda, T1
Clinton, CW; Oldroyd, NO; Osborne, CA1
Kamatani, N; Kanayama, H; Nishioka, K; Tatara, K1
Frensilli, FJ; Manyak, MJ; Miller, HC1
Kamatani, N; Kuroshima, S; Mikanagi, K; Nishioka, K; Terai, C1
Akaoka, I; Fujimori, S; Kamatani, N; Kaneko, K; Nishida, Y; Nishioka, K; Takeuchi, F; Tatara, K; Tofuku, Y; Yamanaka, H1
Akaoka, I; Fujimori, S; Kamatani, N; Nishioka, K; Sakamoto, K; Yamanaka, H1
Koizumi, F; Oura, H; Yokozawa, T1
Akaoka, I; Enomoto, S; Fujimori, S; Kamatani, N; Matsuta, K; Miyamoto, T; Nishioka, K; Takeuchi, F1

Reviews

8 review(s) available for 2,8-dihydroxyadenine and Urinary Calculi

ArticleYear
[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 (APRT*J/APRT*Q0) 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
[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
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

Other Studies

45 other study(ies) available for 2,8-dihydroxyadenine and Urinary Calculi

ArticleYear
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
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
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
[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
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
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
[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
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
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
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
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
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
[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
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) 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
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
[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
[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
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