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adenine and Autotomy Human

adenine has been researched along with Autotomy Human in 15 studies

Research Excerpts

ExcerptRelevanceReference
"A sex-linked familial neurological disease consisting of cerebral palsy, mental retardation, choreoathetosis, and compulsive aggressive behavior is associated with a loss of an enzyme that participates in purine metabolism, namely, hypoxanthine-guanine phosphoribosyltransferase."3.64Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. ( Kelley, WN; Rosenbloom, FM; Seegmiller, JE, 1967)

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-199015 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Seegmiller, JE4
Rosenbloom, FM2
Kelley, WN2
van der Zee, SP3
Schretlen, ED3
Monnens, LA1
Boyle, JA2
Green, ML1
Wood, MH1
Fox, RM1
Vincent, L1
Reye, C1
O'Sullivan, WJ1
Sweetman, L2
Nyhan, WL3
Lommen, EJ2
Vogels, GD1
Trijbels, JM2
Dancis, J2
Cox, RP1
Berman, PH2
Jansen, V1
Balis, ME2
Raivio, KO1
Astrin, KH1
Schulman, JD1
Graf, ML1
Jacobsen, CB1
Frost, P1
Weinstein, GD1
Chow, DC1
Kawahara, FS1
Saunders, T1
Sorensen, LB1
Henderson, JF1
Caldwell, IC1
Watts, RW1

Other Studies

15 other studies available for adenine and Autotomy Human

ArticleYear
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
    Science (New York, N.Y.), 1967, Mar-31, Volume: 155, Issue:3770

    Topics: Adenine; Adenine Nucleotides; Adolescent; Adult; Aggression; Athetosis; Azathioprine; Cerebral Palsy

1967
Megaloblastic anaemia in the Lesch-Nyhan syndrome.
    Lancet (London, England), 1968, Jun-29, Volume: 1, Issue:7557

    Topics: Adenine; Anemia, Macrocytic; Cerebral Palsy; Child; Humans; Intellectual Disability; Male; Movement

1968
Substrate stabilization: genetically-controlled reciprocal relationship between two enzymes.
    Annals of the rheumatic diseases, 1971, Volume: 30, Issue:3

    Topics: Adenine; Athetosis; Diphosphates; Erythrocytes; Humans; Hypoxanthines; Intellectual Disability; Lesc

1971
The Lesch-Nyhan syndrome: report of three cases.
    Australian and New Zealand journal of medicine, 1972, Volume: 2, Issue:1

    Topics: Adenine; Adolescent; Adult; Allopurinol; Athetosis; Australia; Child; Humans; Hypoxanthines; Intelle

1972
Further studies of the enzyme composition of mutant cells in X-linked uric aciduria.
    Archives of internal medicine, 1972, Volume: 130, Issue:2

    Topics: Adenine; Athetosis; Erythrocytes; Fibroblasts; Guanine; Humans; Hypoxanthines; Inosine; Intellectual

1972
Concentration of purine nucleotides in erythrocytes of patients with the Lesch-Nyhan syndrome before and during oral administration of adenine.
    Acta paediatrica Scandinavica, 1971, Volume: 60, Issue:6

    Topics: Adenine; Athetosis; Chemical Precipitation; Child; Child, Preschool; Erythrocytes; Hematocrit; Human

1971
Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject.
    Biochemical medicine, 1970, Volume: 4, Issue:2

    Topics: Adenine; Adenosine; Athetosis; Child; Chromatography, Gel; Chromatography, Ion Exchange; Formamides;

1970
Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency).
    Biochemical genetics, 1969, Volume: 3, Issue:6

    Topics: Adenine; Autoradiography; Cell Line; Culture Techniques; Female; Fibroblasts; Heterozygote; Humans;

1969
The influence of adenine on the clinical features and purine metabolism in the Lesch-Nyhan syndrome.
    Acta paediatrica Scandinavica, 1970, Volume: 59, Issue:3

    Topics: Adenine; Allopurinol; Athetosis; Bone Marrow; Carbon Isotopes; Child; Child, Preschool; Chorea; Comp

1970
Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.
    Science (New York, N.Y.), 1970, Aug-14, Volume: 169, Issue:3946

    Topics: Adenine; Amniotic Fluid; Athetosis; Autoradiography; Basal Ganglia; Carbon Isotopes; Cerebellum; Cer

1970
Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens.
    JAMA, 1970, Apr-13, Volume: 212, Issue:2

    Topics: Adenine; Adolescent; Adult; Aged; Child; Clinical Enzyme Tests; Erythrocytes; Female; Fibroblasts; G

1970
A new assay method for hypoxanthine-guanine phosphoribosyltransferase.
    The Journal of laboratory and clinical medicine, 1970, Volume: 76, Issue:5

    Topics: Adenine; Adenine Nucleotides; Athetosis; Carbon Isotopes; Chorea; Chromatography; Compulsive Behavio

1970
Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase.
    The Journal of biological chemistry, 1968, Mar-25, Volume: 243, Issue:6

    Topics: Adenine; Adenine Nucleotides; Adolescent; Adult; Athetosis; Biopsy; Carbon Isotopes; Child; Child, P

1968
Congenital hyperuricemia. An inborn error of purine metabolism associated with psychomotor retardation, athetosis, and self-mutilation.
    Archives of neurology, 1969, Volume: 20, Issue:1

    Topics: Adenine; Allopurinol; Athetosis; Child, Preschool; Diet Therapy; Genes, Recessive; Humans; Male; Met

1969
Hyperuricaemia: some biochemical aspects.
    Proceedings of the Royal Society of Medicine, 1969, Volume: 62, Issue:8

    Topics: Adenine; Carbon Isotopes; Glycine; Humans; In Vitro Techniques; Intellectual Disability; Metabolic D

1969