Neurometabolische Krankheiten mit neuropathologischen Befunden

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Neurometabolische Krankheiten mit neuropathologischen Befunden

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Nach einer Darstellung allgemeiner Klassifikationsprinzipien und praktisch-diagnostischer Empfehlungen werden die Morphologie, Biochemie und Klinik zahlreicher neurologischer Krankheiten mit Stoffwechseldefekt besprochen. Wesentliche Krankheitsgruppen umfassen lysosomale Krankheiten (Gangliosidosen, Leukodystrophien, Sphingolipidosen, Mukolipidosen, Oligosaccharidosen, Mukopolysaccharidosen, Zeroidlipofuszinosen), peroxisomale Krankheiten, Mitochondriopathien, Polyglucosankrankheiten, Stoffwechselstorungen der Aminosauren und Krankheiten des Kupferstoffwechsels. Dabei wird besonderer Wert auf die Differentialdiagnose gelegt.

year	journal	country	edition	language
2012-01-01

https://doi.org/10.1007/978-3-642-02324-8_6

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