000 01352 a2200385 4500
005 20250517193132.0
264 0 _c20180823
008 201808s 0 0 eng d
022 _a1432-1459
024 7 _a10.1007/s00415-017-8723-5
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLin, Juei-Jueng
245 0 0 _aVariability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.
_h[electronic resource]
260 _bJournal of neurology
_cMar 2018
300 _a478-485 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAged
650 0 4 _aChild
650 0 4 _aCorpus Striatum
_xdiagnostic imaging
650 0 4 _aDopamine
_xmetabolism
650 0 4 _aDystonic Disorders
_xdiagnostic imaging
650 0 4 _aFamily
650 0 4 _aFemale
650 0 4 _aGTP Cyclohydrolase
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation
650 0 4 _aSubstantia Nigra
_xdiagnostic imaging
650 0 4 _aTomography, Emission-Computed, Single-Photon
700 1 _aLu, Chin-Song
700 1 _aTsai, Chon-Haw
773 0 _tJournal of neurology
_gvol. 265
_gno. 3
_gp. 478-485
856 4 0 _uhttps://doi.org/10.1007/s00415-017-8723-5
_zAvailable from publisher's website
999 _c27937160
_d27937160