000 01543 a2200469 4500
005 20250516160722.0
264 0 _c20150330
008 201503s 0 0 eng d
022 _a1750-1172
024 7 _a10.1186/1750-1172-8-103
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aAnjema, Karen
245 0 0 _aTetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
_h[electronic resource]
260 _bOrphanet journal of rare diseases
_cJul 2013
300 _a103 p.
_bdigital
500 _aPublication Type: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aBiopterins
_xanalogs & derivatives
650 0 4 _aChild
650 0 4 _aFemale
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aPhenylketonurias
_xdrug therapy
650 0 4 _aYoung Adult
700 1 _avan Rijn, Margreet
700 1 _aHofstede, Floris C
700 1 _aBosch, Annet M
700 1 _aHollak, Carla E M
700 1 _aRubio-Gozalbo, Estela
700 1 _ade Vries, Maaike C
700 1 _aJanssen, Mirian C H
700 1 _aBoelen, Carolien C A
700 1 _aBurgerhof, Johannes G M
700 1 _aBlau, Nenad
700 1 _aHeiner-Fokkema, M Rebecca
700 1 _avan Spronsen, Francjan J
773 0 _tOrphanet journal of rare diseases
_gvol. 8
_gp. 103
856 4 0 _uhttps://doi.org/10.1186/1750-1172-8-103
_zAvailable from publisher's website
999 _c22906795
_d22906795