| 000 | 01601 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250515153651.0 | ||
| 264 | 0 | _c20090522 | |
| 008 | 200905s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-008-0969-8 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSteinberg, S J | |
| 245 | 0 | 0 |
_aA PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cFeb 2009 |
||
| 300 |
_a109-19 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xphysiology |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPeroxins |
| 650 | 0 | 4 |
_aPeroxisomes _xchemistry |
| 650 | 0 | 4 |
_aReceptors, Cytoplasmic and Nuclear _xgenetics |
| 650 | 0 | 4 |
_aZellweger Syndrome _xdiagnosis |
| 700 | 1 | _aSnowden, A | |
| 700 | 1 | _aBraverman, N E | |
| 700 | 1 | _aChen, L | |
| 700 | 1 | _aWatkins, P A | |
| 700 | 1 | _aClayton, P T | |
| 700 | 1 | _aSetchell, K D R | |
| 700 | 1 | _aHeubi, J E | |
| 700 | 1 | _aRaymond, G V | |
| 700 | 1 | _aMoser, A B | |
| 700 | 1 | _aMoser, H W | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 32 _gno. 1 _gp. 109-19 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-008-0969-8 _zAvailable from publisher's website |
| 999 |
_c18576703 _d18576703 |
||