000			02258 a2200673 4500
005			20250516023508.0
264		0	_c20110329
008			201103s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2011.01.004 _2doi
040			_aNLM _beng _cNLM
100	1		_aBanka, Siddharth
245	0	0	_aIdentification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. _h[electronic resource]
260			_bAmerican journal of human genetics _cFeb 2011
300			_a216-25 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Metabolism, Inborn Errors _xdrug therapy
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnemia, Megaloblastic _xdrug therapy
650	0	4	_aBase Sequence
650	0	4	_aBiopterins _xanalogs & derivatives
650	0	4	_aBrain _xenzymology
650	0	4	_aFemale
650	0	4	_aFolic Acid _xcerebrospinal fluid
650	0	4	_aFolic Acid Deficiency _xcerebrospinal fluid
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aLeucovorin _xtherapeutic use
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aModels, Molecular
650	0	4	_aMolecular Sequence Data
650	0	4	_aPancytopenia _xdrug therapy
650	0	4	_aPedigree
650	0	4	_aProtein Conformation
650	0	4	_aSequence Homology, Amino Acid
650	0	4	_aTetrahydrofolate Dehydrogenase _xchemistry
700	1		_aBlom, Henk J
700	1		_aWalter, John
700	1		_aAziz, Majid
700	1		_aUrquhart, Jill
700	1		_aClouthier, Christopher M
700	1		_aRice, Gillian I
700	1		_ade Brouwer, Arjan P M
700	1		_aHilton, Emma
700	1		_aVassallo, Grace
700	1		_aWill, Andrew
700	1		_aSmith, Desirée E C
700	1		_aSmulders, Yvo M
700	1		_aWevers, Ron A
700	1		_aSteinfeld, Robert
700	1		_aHeales, Simon
700	1		_aCrow, Yanick J
700	1		_aPelletier, Joelle N
700	1		_aJones, Simon
700	1		_aNewman, William G
773	0		_tAmerican journal of human genetics _gvol. 88 _gno. 2 _gp. 216-25
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2011.01.004 _zAvailable from publisher's website
999			_c20587957 _d20587957