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uric acid and Friedreich Ataxia

uric acid has been researched along with Friedreich Ataxia in 3 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.

Friedreich Ataxia: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19902 (66.67)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Schirinzi, T1
Vasco, G1
Zanni, G1
Petrillo, S1
Piemonte, F1
Castelli, E1
Bertini, ES1
Draper, P1
Lemieux, B2
Fox, IH1
Shapcott, D2
Butterworth, RF1
Melançon, S1
Breton, G1
Geoffroy, G1
Barbeau, A1

Other Studies

3 other studies available for uric acid and Friedreich Ataxia

ArticleYear
Serum uric acid in Friedreich Ataxia.
    Clinical biochemistry, 2018, Volume: 54

    Topics: Adolescent; Adult; Biomarkers; Child; Databases, Factual; Female; Friedreich Ataxia; Humans; Male; R

2018
Purine metabolism in Friedreich's ataxia.
    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 1978, Volume: 5, Issue:1

    Topics: Adolescent; Adult; Creatinine; Female; Friedreich Ataxia; Humans; Male; Purines; Uric Acid

1978
Clinical laboratory findings in Friedreich's ataxia.
    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 1976, Volume: 3, Issue:4

    Topics: Alanine Transaminase; Aspartate Aminotransferases; Blood Group Antigens; Creatinine; Friedreich Atax

1976