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Probleme Der Phenylketonurie, Der Galaktosämie Und Des Galaktokinasemangels
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ISBN10: 3531026151
ISBN13: 9783531026152
Publisher: Vs Verlag Fur Sozialwissenschaften
Published: Jan 1 1977
Pages: 83
Weight: 0.34
Height: 0.18 Width: 6.69 Depth: 9.61
Language: German
ISBN13: 9783531026152
Publisher: Vs Verlag Fur Sozialwissenschaften
Published: Jan 1 1977
Pages: 83
Weight: 0.34
Height: 0.18 Width: 6.69 Depth: 9.61
Language: German
Unter den diagnostischen Verfahren wird die Isotopenmethode nach et al. zum Nachweis des Galaktokinasemangels ausfUhrlich be- schrieben. Diese Methode wurde kritisch geprUft und war der An- la8, ein enzymatisches Verfahren zu entwickeln, das auf den teu- ren apparativen Aufwand des Isotopen-Verfahrens verzichtet und au8erdem in kUrzerer Versuchszeit zumindest gleichwertige Ergeb- nisse liefert. Diese enzymatische Methode wird beschrieben, und die Blutunter- suchungen der Probanden werden ausgewertet. Die Ergebnisse der eigenen Versuche mit der enzymatischen Metho- de best tigen die Aussagen von et al. Uber den bedeutend ho- heren Umsatz bei Sauglingen sowie Uber eine Abnahme der Kinase- aktivitat mit zunehmendem Alter und die individuellen Schwankun- gen innerhalb einer Altersgruppe. Literaturverzeichnis zu Teil B, Kapitel 6 1) Fanconi, G.: Hochgradige Galaktoseintoleranz bei einem Kinde mit Neu- rofibromatosis Recklinghausen. Jahrb. Kinderheilkunde,, 1 (1933). 2) Gitzelmann, R.: Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet, 670 (1965). 3) Thalhammer, 0.; R. Gitzelmann; P.D. Pantlitschko: Hypergalactosemia and Galactosuria Due to Galactokinase Deficiency in a Newborn. Pediatrics i , 441 (1968). 4) Gitzelmann, R.: Galaktose-Stoffwechsel. Monatszeitschrift fur Kinder- heilkunde l!l, 24 (1969). 5) Lerman, S.: pathogenetic Factors in Experimental Galactose Cataract. Arch. Ophthalmol. (Chicago) 65, 334 (1961). 6) Sidbury, J.B.jr.: Molecular G;netics and Human Disease. Gardner, L.I., ed. p. 61 Charles C. Thomas, Springfield (1961). 7) Gitzelmann, R.: Hereditary Galactokinase Deficiency. A Newly Recognized Cause of Juvenile Cataracts. Pediat. Res. 1, 14 (1967).
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