期刊
JOURNAL OF HEPATOLOGY
卷 42, 期 6, 页码 947-949出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jhep.2005.02.013
关键词
hypertransaminasemia; iron overload; ceruloplasmin; genetic test; mutations; aceruloplasminemia
A 39-year-old asymptomatic man showed elevated serum ferritin levels, mild hypertransaminasemia and serum ceruloplasmin almost undetectable. There was histological iron accumulation within the hepatocytes and also in the central nervous system (MRI). A genetic analysis revealed a new missense mutation in the ceruloplasmin gene. Two of the other four siblings were also affected by this mutation. (C) 2005 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
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