| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10832534 | Molecular Genetics and Metabolism | 2016 | 8 Pages |
Abstract
Sialuria is a rare inborn error of metabolism characterized by excessive synthesis and urinary excretion of free sialic acid with only minimal clinical morbidity in early childhood, but may be a risk factor for intrahepatic cholangiocarcinoma in adulthood.
Keywords
ManNAcIHCCGGCGNEOFCCMPALTUDPGlcNAcMIPOccipitofrontal head circumferenceSialuriaDMBH&EHCCFFPEN-acetylmannosamineuridine diphosphateASTAlanine aminotransferasecarbohydrate antigenloss of heterozygositySialic acidsElectromagneticMRIstandard deviationaspartate transaminaseMagnetic resonance imagingcytokeratinCytidine monophosphateformalin-fixed, paraffin-embeddedLOHMIMMendelian Inheritance in ManN-acetylglucosamineHematoxylin and EosinHepatomegalyMolecular inversion probeHepatocellular carcinomaHigh pressure liquid chromatographyHPLCIntrahepatic cholangiocarcinomaglutamyl transpeptidase
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Authors
Neena L. Champaigne, Jules G. Leroy, Priya S. Kishnani, Jochen Decaestecker, Edwin Steenkiste, Alka Chaubey, Jiarui Li, Chris Verslype, Jo Van Dorpe, Laura Pollard, Jennifer L. Goldstein, Louis Libbrecht, Monica Basehore, Nansheng Chen, Heping Hu,