000 01665 a2200457 4500
005 20250515221816.0
264 0 _c20110503
008 201105s 0 0 eng d
022 _a1872-7131
024 7 _a10.1016/j.braindev.2010.03.009
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aFung, Eva Lai-wah
245 0 0 _aFirst report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.
_h[electronic resource]
260 _bBrain & development
_cFeb 2011
300 _a170-3 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAsian People
_xgenetics
650 0 4 _aBlood Glucose
_xmetabolism
650 0 4 _aCarbohydrate Metabolism, Inborn Errors
_xdiet therapy
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDiet, Ketogenic
_xmethods
650 0 4 _aFemale
650 0 4 _aGlucose
_xcerebrospinal fluid
650 0 4 _aGlucose Transporter Type 1
_xdeficiency
650 0 4 _aGuanosine
_xanalogs & derivatives
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMonosaccharide Transport Proteins
_xdeficiency
650 0 4 _aMutation
_xgenetics
700 1 _aHo, Yuan Yuan
700 1 _aHui, Joannie
700 1 _aWong, Jack Ho
700 1 _aNg, Tzi-Bun
700 1 _aFong, Nga-Yin Fion
700 1 _aKlepper, Joerg
700 1 _aTsui, Kwok-Wing Stephen
773 0 _tBrain & development
_gvol. 33
_gno. 2
_gp. 170-3
856 4 0 _uhttps://doi.org/10.1016/j.braindev.2010.03.009
_zAvailable from publisher's website
999 _c19774339
_d19774339