Page last updated: 2024-10-20

uric acid and Autosomal Chromosome Disorders

uric acid has been researched along with Autosomal Chromosome Disorders in 17 studies

Uric Acid: An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.
uric acid : An oxopurine that is the final oxidation product of purine metabolism.
6-hydroxy-1H-purine-2,8(7H,9H)-dione : A tautomer of uric acid having oxo groups at C-2 and C-8 and a hydroxy group at C-6.
7,9-dihydro-1H-purine-2,6,8(3H)-trione : An oxopurine in which the purine ring is substituted by oxo groups at positions 2, 6, and 8.

Research

Studies (17)

TimeframeStudies, this research(%)All Research%
pre-199016 (94.12)18.7374
1990's1 (5.88)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kobrinsky, NL1
Robison, LL1
Nesbit, ME1
Mayaudon, H1
Burnat, P1
Eulry, F1
Payen, C1
Dupuy, O1
Ducorps, M1
Bauduceau, B1
Persaud, TV1
de Vries, A1
Sperling, O2
Benjamin, D1
Weinberg, A1
Pinkhas, J1
Akaoka, I1
Nishizawa, T1
Yano, E1
Takeuchi, A1
Nishida, Y1
Harding, BN1
Dunger, DB1
Grant, DB1
Erdohazi, M1
Aukett, A1
Bennett, MJ1
Hosking, GP1
Paulson, GW1
Nance, W1
Son, C1
Reed, WB1
Nyhan, WL1
Fox, IH1
Meade, JC1
Kelley, WN1
Amer, M1
el-Shazly, M1
Delbarre, F1
Auscher, C1
Amor, B1
de Gery, A1
Cartier, P1
Hamet, M1
Sarto, GE1
Van Goor, W1
Kooiker, CJ1
Mees, EJ1
Newcombe, DS1
Shapiro, SL1
Sheppard, GL1
Dreifuss, FE1

Reviews

3 reviews available for uric acid and Autosomal Chromosome Disorders

ArticleYear
Acute nonlymphocytic leukemia.
    Pediatric clinics of North America, 1980, Volume: 27, Issue:2

    Topics: Acute Disease; Adolescent; Agranulocytosis; Antineoplastic Agents; Cells, Cultured; Child; Child, Pr

1980
Prenatal diagnosis and its pathologic confirmation.
    Perspectives in pediatric pathology, 1976, Volume: 3

    Topics: alpha-Fetoproteins; Amniocentesis; Amniotic Fluid; Chromosome Aberrations; Chromosome Disorders; Cre

1976
The Lesch-Nyhan syndrome.
    Annual review of medicine, 1973, Volume: 24

    Topics: Allopurinol; Animals; Brain; Chromosome Aberrations; Chromosome Disorders; Guanine; Humans; Hypoxant

1973

Other Studies

14 other studies available for uric acid and Autosomal Chromosome Disorders

ArticleYear
[Hereditary xanthinuria, rare cause of hypo-uric acidemia. 2 cases].
    Presse medicale (Paris, France : 1983), 1998, Apr-11, Volume: 27, Issue:14

    Topics: Adult; Aged; Chromosome Aberrations; Chromosome Disorders; Female; Genes, Recessive; Humans; Kidney

1998
Inborn hypouricemia due to isolated renal tubular defect.
    Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1979, Volume: 30, Issue:2

    Topics: Adult; Calcium; Chromosome Aberrations; Chromosome Disorders; Female; Glomerular Filtration Rate; Hu

1979
Familial hypouricemia due to isolated renal tubular abnormality.
    Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1978, Volume: 29, Issue:2

    Topics: Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Humans; Male; Middle Aged; Probeneci

1978
Familial hypouricaemia due to renal tubular defect of urate transport.
    Annals of clinical research, 1975, Volume: 7, Issue:5

    Topics: Adult; Chromosome Aberrations; Chromosome Disorders; Circadian Rhythm; Creatinine; Humans; Male; Ped

1975
Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.
    Journal of neurology, neurosurgery, and psychiatry, 1988, Volume: 51, Issue:3

    Topics: Brain; Chromosome Aberrations; Chromosome Disorders; Creatinine; Failure to Thrive; Female; Genes, R

1988
Molybdenum co-factor deficiency: an easily missed inborn error of metabolism.
    Developmental medicine and child neurology, 1988, Volume: 30, Issue:4

    Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Chromosome Aberrations; Chromosome Disorders; Coenzymes;

1988
Neurologic aspects of typical and atypical Down's syndrome.
    Neurology, 1968, Volume: 18, Issue:3

    Topics: Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Down Syndrome; Electroencepha

1968
[Genetic aspects in dermatology].
    Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 1970, Volume: 21, Issue:1

    Topics: Adult; Alopecia; Amino Acid Metabolism, Inborn Errors; Athetosis; Carotid Body Tumor; Chorea; Chromo

1970
Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
    The American journal of medicine, 1973, Volume: 55, Issue:5

    Topics: Adenine; Adenosine Triphosphate; Cells, Cultured; Chromosome Aberrations; Chromosome Disorders; Eryt

1973
The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome.
    The British journal of dermatology, 1974, Volume: 90, Issue:3

    Topics: Abnormalities, Multiple; Adolescent; Adult; Blood Glucose; Child; Cholesterol; Chromosome Aberration

1974
Gout with adenine phosphoribosyl transferase deficiency.
    Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1974, Volume: 21, Issue:2

    Topics: Adenine; Adolescent; Adult; Aged; Allopurinol; Carbon Radioisotopes; Child; Child, Preschool; Chromo

1974
Prenatal diagnosis of genetic disorders by amniocentesis.
    Wisconsin medical journal, 1970, Volume: 69, Issue:12

    Topics: Adult; Amniotic Fluid; Athetosis; Chorea; Chromosome Aberrations; Chromosome Disorders; Compulsive B

1970
An unusual form of renal disease associated with gout and hypertension.
    Journal of clinical pathology, 1971, Volume: 24, Issue:4

    Topics: Adolescent; Adult; Aged; Biopsy; Cerebrovascular Disorders; Chromosome Aberrations; Chromosome Disor

1971
Treatment of x-linked primary hyperuricemia with allopurinol.
    JAMA, 1966, Oct-17, Volume: 198, Issue:3

    Topics: Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Enzyme Therapy; Hematuria; Humans; M

1966