Page last updated: 2024-10-20

purine and Down Syndrome

purine has been researched along with Down Syndrome in 2 studies

1H-purine : The 1H-tautomer of purine.
3H-purine : The 3H-tautomer of purine.
9H-purine : The 9H-tautomer of purine.
7H-purine : The 7H-tautomer of purine.

Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19901 (50.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Huang, J1
Mo, J1
Zhao, G1
Lin, Q1
Wei, G1
Deng, W1
Chen, D1
Yu, B1
APPLETON, MD1
HAAB, W1
CASEY, PJ1
CASTELLINO, FJ1
SCHORR, JM1
MIRAGLIA, RJ1

Other Studies

2 other studies available for purine and Down Syndrome

ArticleYear
Application of the amniotic fluid metabolome to the study of fetal malformations, using Down syndrome as a specific model.
    Molecular medicine reports, 2017, Volume: 16, Issue:5

    Topics: Adult; Amniotic Fluid; Chromatography, High Pressure Liquid; Coproporphyrins; Discriminant Analysis;

2017
ROLE OF VITAMIN A IN GAMMA GLOBULIN BIOSYNTHESIS AND URIC ACID METABOLISM OF MONGOLOIDS.
    American journal of mental deficiency, 1964, Volume: 69

    Topics: Blood; Body Fluids; Down Syndrome; gamma-Globulins; Intellectual Disability; Proteins; Purines; Rats

1964