000			02048 a2200625 4500
005			20250517093422.0
264		0	_c20180119
008			201801s 0 0 eng d
022			_a1096-7206
024	7		_a10.1016/j.ymgme.2016.04.004 _2doi
040			_aNLM _beng _cNLM
100	1		_aChampaigne, Neena L
245	0	0	_aNew observation of sialuria prompts detection of liver tumor in previously reported patient. _h[electronic resource]
260			_bMolecular genetics and metabolism _c06 2016
300			_a92-9 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
650	0	4	_aBile Duct Neoplasms _xdiagnosis
650	0	4	_aChild
650	0	4	_aCholangiocarcinoma _xdiagnosis
650	0	4	_aFemale
650	0	4	_aHepatomegaly _xdiagnosis
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aLiver _xpathology
650	0	4	_aLiver Neoplasms _xdiagnosis
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aN-Acetylneuraminic Acid _xbiosynthesis
650	0	4	_aRare Diseases _xdiagnosis
650	0	4	_aRetrospective Studies
650	0	4	_aRisk Factors
650	0	4	_aSialic Acid Storage Disease _xdiagnosis
650	0	4	_aExome Sequencing
650	0	4	_aYoung Adult
700	1		_aLeroy, Jules G
700	1		_aKishnani, Priya S
700	1		_aDecaestecker, Jochen
700	1		_aSteenkiste, Edwin
700	1		_aChaubey, Alka
700	1		_aLi, Jiarui
700	1		_aVerslype, Chris
700	1		_aVan Dorpe, Jo
700	1		_aPollard, Laura
700	1		_aGoldstein, Jennifer L
700	1		_aLibbrecht, Louis
700	1		_aBasehore, Monica
700	1		_aChen, Nansheng
700	1		_aHu, Heping
700	1		_aWood, Tim
700	1		_aFriez, Michael J
700	1		_aHuizing, Marjan
700	1		_aStevenson, Roger E
773	0		_tMolecular genetics and metabolism _gvol. 118 _gno. 2 _gp. 92-9
856	4	0	_uhttps://doi.org/10.1016/j.ymgme.2016.04.004 _zAvailable from publisher's website
999			_c25984852 _d25984852