Keratitis, ichthyosis, and deafness syndrome with glycogen storage.
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.
W
W
Jurecka
E
E
Aberer
M
M
Mainitz
O
O
Jürgensen
D002648:Child; D003593:Cytoplasm / Q000378:metabolism; D003638:Deafness / Q000150:complications*; D005260:Female; D006003:Glycogen / Q000378:metabolism*; D006801:Humans; D007057:Ichthyosis / Q000150:complications*; D007634:Keratitis / Q000150:complications*; D008928:Mitochondria / Q000378:metabolism; D012867:Skin / Q000378:metabolism / Q000648:ultrastructure; D013194:Staining and Labeling; D013577:Syndrome
D006003:Glycogen