New observation of sialuria prompts detection of liver tumor in previously reported patient. [electronic resource]
Producer: 20180119Description: 92-9 p. digitalISSN:- 1096-7206
- Bile Duct Neoplasms -- diagnosis
- Child
- Cholangiocarcinoma -- diagnosis
- Female
- Hepatomegaly -- diagnosis
- Heterozygote
- Humans
- Liver -- pathology
- Liver Neoplasms -- diagnosis
- Male
- Middle Aged
- N-Acetylneuraminic Acid -- biosynthesis
- Rare Diseases -- diagnosis
- Retrospective Studies
- Risk Factors
- Sialic Acid Storage Disease -- diagnosis
- Exome Sequencing
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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