000			01595 a2200457 4500
005			20250515122122.0
264		0	_c20080814
008			200808s 0 0 eng d
022			_a1096-7206
024	7		_a10.1016/j.ymgme.2008.04.003 _2doi
040			_aNLM _beng _cNLM
100	1		_aVerbeek, Marcel M
245	0	0	_aTwo Greek siblings with sepiapterin reductase deficiency. _h[electronic resource]
260			_bMolecular genetics and metabolism _cAug 2008
300			_a403-409 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAlcohol Oxidoreductases _xcerebrospinal fluid
650	0	4	_aBiosynthetic Pathways
650	0	4	_aChild
650	0	4	_aFemale
650	0	4	_aFibroblasts _xenzymology
650	0	4	_aGreece
650	0	4	_aHomovanillic Acid _xcerebrospinal fluid
650	0	4	_aHumans
650	0	4	_aHydroxyindoleacetic Acid _xcerebrospinal fluid
650	0	4	_aMetabolism, Inborn Errors _xcerebrospinal fluid
650	0	4	_aMutation
650	0	4	_aNeurotransmitter Agents _xcerebrospinal fluid
650	0	4	_aPterins _xcerebrospinal fluid
650	0	4	_aSiblings
700	1		_aWillemsen, Michel A A P
700	1		_aWevers, Ron A
700	1		_aLagerwerf, Aart J
700	1		_aAbeling, Nico G G M
700	1		_aBlau, Nenad
700	1		_aThöny, Beat
700	1		_aVargiami, Euthymia
700	1		_aZafeiriou, Dimitrios I
773	0		_tMolecular genetics and metabolism _gvol. 94 _gno. 4 _gp. 403-409
856	4	0	_uhttps://doi.org/10.1016/j.ymgme.2008.04.003 _zAvailable from publisher's website
999			_c17996224 _d17996224