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citric acid, anhydrous and Down Syndrome

citric acid, anhydrous has been researched along with Down Syndrome in 3 studies

Citric Acid: A key intermediate in metabolism. It is an acid compound found in citrus fruits. The salts of citric acid (citrates) can be used as anticoagulants due to their calcium chelating ability.
citric acid : A tricarboxylic acid that is propane-1,2,3-tricarboxylic acid bearing a hydroxy substituent at position 2. It is an important metabolite in the pathway of all aerobic organisms.

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 Excerpts

ExcerptRelevanceReference
" It is also shown that increased gene dosage can exert its influence not merely by enhancing the amounts of gene products but also by altering their biochemical nature."1.28Gene dosage and Down's syndrome: metabolic and enzymatic changes in PC12 cells overexpressing transfected human liver-type phosphofructokinase. ( Ben-Hur, H; Bernstein, Y; Degani, H; Elson, A; Groner, Y; Levanon, D, 1992)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's0 (0.00)29.6817
2010's2 (66.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Pinto, J1
Almeida, LM1
Martins, AS1
Duarte, D1
Domingues, MR1
Barros, AS1
Galhano, E1
Pita, C1
Almeida, Mdo C1
Carreira, IM1
Gil, AM1
Convertini, P1
Menga, A1
Andria, G1
Scala, I1
Santarsiero, A1
Castiglione Morelli, MA1
Iacobazzi, V1
Infantino, V1
Elson, A1
Bernstein, Y1
Degani, H1
Levanon, D1
Ben-Hur, H1
Groner, Y1

Other Studies

3 other studies available for citric acid, anhydrous and Down Syndrome

ArticleYear
Impact of fetal chromosomal disorders on maternal blood metabolome: toward new biomarkers?
    American journal of obstetrics and gynecology, 2015, Volume: 213, Issue:6

    Topics: Acetates; Adult; Biomarkers; Blood Glucose; Case-Control Studies; Chromosome Disorders; Citric Acid;

2015
The contribution of the citrate pathway to oxidative stress in Down syndrome.
    Immunology, 2016, Volume: 149, Issue:4

    Topics: Anion Transport Proteins; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; C

2016
Gene dosage and Down's syndrome: metabolic and enzymatic changes in PC12 cells overexpressing transfected human liver-type phosphofructokinase.
    Somatic cell and molecular genetics, 1992, Volume: 18, Issue:2

    Topics: Adenosine Triphosphate; Animals; Base Sequence; Citrates; Citric Acid; Cloning, Molecular; Down Synd

1992