Zusammenfassung
Stoffwechselerkrankungen können sich klinisch auf verschiedene Weise präsentieren:
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Die Kinder entwickeln sich zunächst normal und erleiden dann einen plötzlichen Entwicklungs-knick. Diese Form ist am leichtesten zu diagnostizieren.
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Die Entwicklungsstörung verläuft schleichend und ist v.a. für die nächsten Bezugspersonen anfänglich nicht nachvollziehbar.
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Die Kinder kommen im Rahmen einer akuten Stoffwechselkrise erstmals ins Krankenhaus.
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Göhlich-Ratmann, G., Voit, T. (1999). Stoffwechselerkrankungen des Nervensystems. In: Berlit, P. (eds) Klinische Neurologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-08118-1_46
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