000			02233 a2200697 4500
005			20250518072637.0
264		0	_c20200402
008			202004s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2019.11.002 _2doi
040			_aNLM _beng _cNLM
100	1		_aWang, Julia
245	0	0	_aLoss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. _h[electronic resource]
260			_bAmerican journal of human genetics _c12 2019
300			_a1237-1253 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAnimals
650	0	4	_aAtrophy _xgenetics
650	0	4	_aCerebellar Diseases _xgenetics
650	0	4	_aChild
650	0	4	_aDrosophila melanogaster _xgrowth & development
650	0	4	_aFemale
650	0	4	_aFibroblasts _xmetabolism
650	0	4	_aHumans
650	0	4	_aLysosomes _xmetabolism
650	0	4	_aMale
650	0	4	_aMitochondrial Proteins _xgenetics
650	0	4	_aNervous System Diseases _xgenetics
650	0	4	_aOxidative Stress
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aYoung Adult
700	1		_aRousseau, Justine
700	1		_aKim, Emily
700	1		_aEhresmann, Sophie
700	1		_aCheng, Yi-Ting
700	1		_aDuraine, Lita
700	1		_aZuo, Zhongyuan
700	1		_aPark, Ye-Jin
700	1		_aLi-Kroeger, David
700	1		_aBi, Weimin
700	1		_aWong, Lee-Jun
700	1		_aRosenfeld, Jill
700	1		_aGleeson, Joseph
700	1		_aFaqeih, Eissa
700	1		_aAlkuraya, Fowzan S
700	1		_aWierenga, Klaas J
700	1		_aChen, Jiani
700	1		_aAfenjar, Alexandra
700	1		_aNava, Caroline
700	1		_aDoummar, Diane
700	1		_aKeren, Boris
700	1		_aJuusola, Jane
700	1		_aGrompe, Markus
700	1		_aBellen, Hugo J
700	1		_aCampeau, Philippe M
773	0		_tAmerican journal of human genetics _gvol. 105 _gno. 6 _gp. 1237-1253
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2019.11.002 _zAvailable from publisher's website
999			_c30370355 _d30370355