000			02058 a2200625 4500
005			20250518053025.0
264		0	_c20200605
008			202006s 0 0 eng d
022			_a1530-8561
024	7		_a10.1373/clinchem.2019.305391 _2doi
040			_aNLM _beng _cNLM
100	1		_avan Tol, Walinka
245	0	0	_aCytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy. _h[electronic resource]
260			_bClinical chemistry _c10 2019
300			_a1295-1306 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAnimals
650	0	4	_aChromatography, Liquid
650	0	4	_aDietary Supplements
650	0	4	_aDrug Monitoring _xmethods
650	0	4	_aDystroglycans
650	0	4	_aFemale
650	0	4	_aGlycosylation
650	0	4	_aHEK293 Cells
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMass Spectrometry
650	0	4	_aMice
650	0	4	_aMice, Transgenic
650	0	4	_aMiddle Aged
650	0	4	_aMuscle, Skeletal _xpathology
650	0	4	_aMuscular Dystrophies _xblood
650	0	4	_aMutation
650	0	4	_aNucleoside Diphosphate Sugars _xanalysis
650	0	4	_aNucleotidyltransferases _xgenetics
650	0	4	_aRibitol _xpharmacology
650	0	4	_aRibose _xpharmacology
700	1		_avan Scherpenzeel, Monique
700	1		_aAlsady, Mohammad
700	1		_aRiemersma, Moniek
700	1		_aHermans, Esther
700	1		_aKragt, Else
700	1		_aTasca, Giorgio
700	1		_aKamsteeg, Erik-Jan
700	1		_aPennings, Maartje
700	1		_avan Beusekom, Ellen
700	1		_aVermeulen, Jeroen R
700	1		_avan Bokhoven, Hans
700	1		_aVoermans, Nicol C
700	1		_aWillemsen, Michèl A
700	1		_aAshikov, Angel
700	1		_aLefeber, Dirk J
773	0		_tClinical chemistry _gvol. 65 _gno. 10 _gp. 1295-1306
856	4	0	_uhttps://doi.org/10.1373/clinchem.2019.305391 _zAvailable from publisher's website
999			_c29969368 _d29969368