Champaigne, Neena L <br/><br/>
New observation of sialuria prompts detection of liver tumor in previously reported patient.  [electronic resource] 

 -  Molecular genetics and metabolism  06 2016 
 - 92-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2016.04.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Bile Duct Neoplasms--diagnosis<br/>Child<br/>Cholangiocarcinoma--diagnosis<br/>Female<br/>Hepatomegaly--diagnosis<br/>Heterozygote<br/>Humans<br/>Liver--pathology<br/>Liver Neoplasms--diagnosis<br/>Male<br/>Middle Aged<br/>N-Acetylneuraminic Acid--biosynthesis<br/>Rare Diseases--diagnosis<br/>Retrospective Studies<br/>Risk Factors<br/>Sialic Acid Storage Disease--diagnosis<br/>Exome Sequencing<br/>Young Adult