| 000 | 01405 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517022207.0 | ||
| 264 | 0 | _c20171004 | |
| 008 | 201710s 0 0 eng d | ||
| 022 | _a2212-1692 | ||
| 024 | 7 |
_a10.1016/j.pedneo.2014.05.008 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLin, Yi-Jie | |
| 245 | 0 | 0 |
_aA Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. _h[electronic resource] |
| 260 |
_bPediatrics and neonatology _c02 2017 |
||
| 300 |
_a89-92 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xgenetics |
| 650 | 0 | 4 |
_aCation Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aCopper-Transporting ATPases |
| 650 | 0 | 4 |
_aHistidine _xanalogs & derivatives |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMenkes Kinky Hair Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aOrganometallic Compounds _xtherapeutic use |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 700 | 1 | _aHo, Che-Sheng | |
| 700 | 1 | _aHsu, Chyong-Hsin | |
| 700 | 1 | _aLin, Ju-Li | |
| 700 | 1 | _aChuang, Chih-Kuang | |
| 700 | 1 | _aTsai, Jen-Daw | |
| 700 | 1 | _aChiu, Nan-Chang | |
| 700 | 1 | _aLin, Hsiang-Yu | |
| 700 | 1 | _aLin, Shuan-Pei | |
| 773 | 0 |
_tPediatrics and neonatology _gvol. 58 _gno. 1 _gp. 89-92 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.pedneo.2014.05.008 _zAvailable from publisher's website |
| 999 |
_c24708244 _d24708244 |
||