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 |