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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 21 (1974), S. 63-68 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Résumé Nous avons testé les taux des AA libres dans le LCS chez 22 nourrrissons trisomiques 21 en comparaison avec 10 nourrissons témoins. Les dosages ont été réalisés par chromatographie sur colonne. Nos résultats ont montré une augmentation des acides dicarboxyliques et d'autres modifications (rapport phénylalanine/tyrosine, glycine/alanine, lysine, histidine, valine, méthionine). Du point de vue statistique les résultats ont été reproductibles. Les variations trouvées sur les acides dicarboxyliques peuvent être liées soit à l'augmentation des synthèses intraneuronales, soit au passage accru à travers la BHM. Il est difficile de conclure que la présence d'un chromosome 21 surnuméraire est la cause des modifications constatées. Des épreuves de surcharge sont envisagées.
    Abstract: Zusammenfassung Bei 12 Säuglingen mit Down-Syndrom und 10 Kontrollen wurden durch Säulenchromatographie die Aminosäuren der Cerebrospinalflüssigkeit gemessen. Folgende statistisch signifikante Veränderungen wurden beim Down-Syndrom festgestellt: Vermehrung der Dicarbonsäuren sowie Veränderungen der Mengenverhältnisse von Phenylalanin/Tyrosin und Glycin/Alanin. Verändert waren ebenfalls die Mengen von Lysin, Histidin, Valin und Methionin. Zur Deutung der Befunde werden erhöhte intraneuronale Synthese und vermehrter Transport durch die Blut-Hirn-Schranke diskutiert. Zur weiteren Klärung sind Aminosäurebelastungsversuche geplant. Es erscheint fraglich, ob die beobachteten Veränderungen eine direkte Folge der Vermehrung des Chromosomenmaterials sind.
    Notes: Summary The amino-acid levels of cerebrospinal fluid have been determined in 22 babies with Down's syndrome. Our study utilized an automatic aminoacid analyzer. Elevated levels of dicarboxylic acids were found, and modification of (phenylalanine/tyrosine and glycine/alanine ratio, lysine, histidine, valine, and methionine levels). The results are statistically reproducible. The relation of these findings to increase of intraneuronal synthesis or passage through the blood-brain barrier are discussed. It is difficult to attribute these modifications of amino-acid levels to the presence of a extra chromosome 21. Loading tests will be carried out.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 29 (1975), S. 79-83 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A comparative study was carried out on the hemolysates of 6 trisomic 21 and 6 normal subjects, by electrophoresis in starch gel, determining by a combined staining method both SOD-A (former IPO-dimer) and PGM activity. The enzymes were found statistically to be in a hyperactive status, the ratio of trisomic to normal values being approximately equal to 1.4. SOD-A supraactivation is the effect of a genic dose, as demonstrated in earlier works (Sichitiu, 1973; Sichitiu et al., 1974; Sinet et al., 1974), whereas PGM hyperactivity appears to be modified secondarily, the same as the activity of other cellular enzymes in Down's disease.
    Type of Medium: Electronic Resource
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