| 000 | 01601 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250515092724.0 | ||
| 264 | 0 | _c20080206 | |
| 008 | 200802s 0 0 eng d | ||
| 022 | _a1434-5161 | ||
| 024 | 7 |
_a10.1007/s10038-007-0211-9 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aUematsu, Mitsugu | |
| 245 | 0 | 0 |
_aNovel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. _h[electronic resource] |
| 260 |
_bJournal of human genetics _c2007 |
||
| 300 |
_a1040-1043 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aCarbon-Carbon Ligases _xdeficiency |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNeonatal Screening _xmethods |
| 650 | 0 | 4 | _aTandem Mass Spectrometry |
| 700 | 1 | _aSakamoto, Osamu | |
| 700 | 1 | _aSugawara, Noriko | |
| 700 | 1 | _aKumagai, Naonori | |
| 700 | 1 | _aMorimoto, Tetsuji | |
| 700 | 1 | _aYamaguchi, Seiji | |
| 700 | 1 | _aHasegawa, Yuki | |
| 700 | 1 | _aKobayashi, Hironori | |
| 700 | 1 | _aIhara, Kenji | |
| 700 | 1 | _aYoshino, Makoto | |
| 700 | 1 | _aWatanabe, Yoriko | |
| 700 | 1 | _aInokuchi, Takahiro | |
| 700 | 1 | _aYokoyama, Takato | |
| 700 | 1 | _aKiwaki, Kohji | |
| 700 | 1 | _aNakamura, Kimitoshi | |
| 700 | 1 | _aEndo, Fumio | |
| 700 | 1 | _aTsuchiya, Shigeru | |
| 700 | 1 | _aOhura, Toshihiro | |
| 773 | 0 |
_tJournal of human genetics _gvol. 52 _gno. 12 _gp. 1040-1043 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10038-007-0211-9 _zAvailable from publisher's website |
| 999 |
_c17487230 _d17487230 |
||