000			02225 a2200637 4500
005			20250517154022.0
264		0	_c20180129
008			201801s 0 0 eng d
022			_a1879-1484
024	7		_a10.1016/j.atherosclerosis.2017.05.002 _2doi
040			_aNLM _beng _cNLM
100	1		_aBuonuomo, Paola Sabrina
245	0	0	_aTimely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. _h[electronic resource]
260			_bAtherosclerosis _c07 2017
300			_a71-77 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aATP Binding Cassette Transporter, Subfamily G, Member 5 _xgenetics
650	0	4	_aATP Binding Cassette Transporter, Subfamily G, Member 8 _xgenetics
650	0	4	_aAnticholesteremic Agents _xtherapeutic use
650	0	4	_aBiomarkers _xblood
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCholesterol, LDL _xblood
650	0	4	_aCodon, Nonsense
650	0	4	_aDNA Mutational Analysis _xmethods
650	0	4	_aDiet, Fat-Restricted
650	0	4	_aEzetimibe _xtherapeutic use
650	0	4	_aFemale
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aHeterozygote
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHumans
650	0	4	_aHypercholesterolemia _xblood
650	0	4	_aIntestinal Diseases _xblood
650	0	4	_aLipid Metabolism, Inborn Errors _xblood
650	0	4	_aLipoproteins _xgenetics
650	0	4	_aMale
650	0	4	_aPhenotype
650	0	4	_aPhytosterols _xadverse effects
650	0	4	_aPredictive Value of Tests
650	0	4	_aSeverity of Illness Index
650	0	4	_aTreatment Outcome
650	0	4	_aUp-Regulation
700	1		_aIughetti, Lorenzo
700	1		_aPisciotta, Livia
700	1		_aRabacchi, Claudio
700	1		_aPapadia, Francesco
700	1		_aBruzzi, Patrizia
700	1		_aTummolo, Albina
700	1		_aBartuli, Andrea
700	1		_aCortese, Claudio
700	1		_aBertolini, Stefano
700	1		_aCalandra, Sebastiano
773	0		_tAtherosclerosis _gvol. 262 _gp. 71-77
856	4	0	_uhttps://doi.org/10.1016/j.atherosclerosis.2017.05.002 _zAvailable from publisher's website
999			_c27188241 _d27188241