Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10832559 | Molecular Genetics and Metabolism | 2015 | 6 Pages |
Abstract
This report reveals several new aspects of SAH hydrolase deficiency. Affected women with SAH hydrolase deficiency can give birth to healthy children. SAH hydrolase deficiency can remain asymptomatic in childhood, and the disorder can be associated with early onset hepatocellular carcinoma. The measurement of serum amino acids should be considered in patients with liver disease or hepatocellular carcinoma of unknown etiology.
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Authors
Stefan Stender, Rima S. Chakrabarti, Chao Xing, Garrett Gotway, Jonathan C. Cohen, Helen H. Hobbs,