Zusammenfassung
Galaktosämie stellt eine heterogene Gruppe autosomal-rezessiv vererbter Stoffwechseldefekte dar, charakterisiert durch erhöhte Galaktosekonzentrationen im Plasma. Mutationen auf Genloci dreier Enzyme des Galaktosestoffwechsels resultieren in Galaktosämie bei Galaktoseexposition.
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© 2001 Springer-Verlag Wien
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Podskarbi, T. (2001). Molekulargenetik des Gal-I-P-Uridyltransferase-Mangels. In: Screening auf angeborene endokrine und metabole Störungen. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6252-1_28
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DOI: https://doi.org/10.1007/978-3-7091-6252-1_28
Publisher Name: Springer, Vienna
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