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Mutation spectrum of type I glycogen storage disease in Hungary

✍ Scribed by G. Miltenberger-Miltenyi; L. Szonyi; L. Balogh; G. Utermann; A. R. Janecke

Publisher
Springer
Year
2005
Tongue
English
Weight
89 KB
Volume
28
Category
Article
ISSN
0141-8955

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## Abstract ## Purpose The aim of this study was to document the sonographic appearance and dimensions of the liver and spleen in patients affected by type I glycogen storage disease and to correlate those findings with laboratory data to evaluate the potential role of sonography in diagnosing tha

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Patients suffering from Type I glycogen storage disease frequently develop hepatic tumors. Some of these were classified as carcinoma, with the majority of tumors representing benign adenomata. However, no evidence exists of malignant transformation of adenomata in these patients. Here, we describe