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Gewählte Publikation:

Jurecka, W; Aberer, E; Mainitz, M; Jürgensen, O.
Keratitis, ichthyosis, and deafness syndrome with glycogen storage.
Arch Dermatol. 1985; 121(6):799-801 Doi: 10.1001/archderm.121.6.799 (- Case Report)
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Co-Autor*innen der Med Uni Graz
Aberer Elisabeth
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Abstract:
Electron microscopy performed in a young girl suffering from keratitis, ichthyosis, and deafness syndrome showed pathologic storage of glycogen in various types of tissues. This finding may be interpreted as evidence of an underlying inborn error of metabolism.
Find related publications in this database (using NLM MeSH Indexing)
Child -
Cytoplasm - metabolism
Deafness - complications
Female - complications
Glycogen - metabolism
Humans - metabolism
Ichthyosis - complications
Keratitis - complications
Mitochondria - metabolism
Skin - metabolism
Staining and Labeling - metabolism
Syndrome - metabolism

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