Auszug
Die drei bekannten hereditären Defekte im Galakto-sestoffwechsel werden durch autosomal rezessiv vererbte Störungen im Abbau der Galaktose verursacht: Galaktokinase, Galaktose-1-phosphat-Uridyltransfera-se (»klassische Galaktosämie«) und UDP-Galaktose-4-Epimerase ⊡ Abb. 44.1).
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Literatur
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Hoffmann, G.F. (2007). Galaktosämien und andere seltene Störungen des Kohlenhydratstoffwechsels. In: Schölmerich, J. (eds) Medizinische Therapie 2007 | 2008. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-48554-4_44
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