| 000 | 01555 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250517102930.0 | ||
| 264 | 0 | _c20160721 | |
| 008 | 201607s 0 0 jpn d | ||
| 022 | _a0029-0831 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMorisada, Naoya | |
| 245 | 0 | 0 |
_a[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]. _h[electronic resource] |
| 260 |
_bNo to hattatsu = Brain and development _cMay 2016 |
||
| 300 |
_a209-12 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; English Abstract; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAutophagy _xgenetics |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDelayed Diagnosis |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIron Metabolism Disorders _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeuroaxonal Dystrophies _xdiagnosis |
| 650 | 0 | 4 | _aRett Syndrome |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aTsuneishi, Syuichi | |
| 700 | 1 | _aTaguchi, Kazuhiro | |
| 700 | 1 | _aYagi, Ryuzaburo | |
| 700 | 1 | _aNishiyama, Masahiro | |
| 700 | 1 | _aToyoshima, Daisaku | |
| 700 | 1 | _aNakagawa, Taku | |
| 700 | 1 | _aTakeshima, Yasuhiro | |
| 700 | 1 | _aTakada, Satoshi | |
| 700 | 1 | _aIijima, Kazumoto | |
| 773 | 0 |
_tNo to hattatsu = Brain and development _gvol. 48 _gno. 3 _gp. 209-12 |
|
| 999 |
_c26165765 _d26165765 |
||