| 000 | 01679 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516001825.0 | ||
| 264 | 0 | _c20140408 | |
| 008 | 201404s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-010-9183-6 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSmith, Emily Helen | |
| 245 | 0 | 0 |
_aAn adult onset case of alpha-methyl-acyl-CoA racemase deficiency. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cDec 2010 |
||
| 300 |
_aS349-53 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 |
_aBiomarkers _xblood |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aFatty Acids _xblood |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeukoencephalopathies _xetiology |
| 650 | 0 | 4 |
_aLipid Metabolism, Inborn Errors _xblood |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNervous System Diseases _xblood |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhytanic Acid _xblood |
| 650 | 0 | 4 |
_aRacemases and Epimerases _xblood |
| 650 | 0 | 4 | _aRemission Induction |
| 650 | 0 | 4 |
_aSeizures _xetiology |
| 650 | 0 | 4 | _aTreatment Outcome |
| 700 | 1 | _aGavrilov, Dimitar K | |
| 700 | 1 | _aOglesbee, Devin | |
| 700 | 1 | _aFreeman, William D | |
| 700 | 1 | _aVavra, Michael W | |
| 700 | 1 | _aMatern, Dietrich | |
| 700 | 1 | _aTortorelli, Silvia | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 33 Suppl 3 _gp. S349-53 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-010-9183-6 _zAvailable from publisher's website |
| 999 |
_c20153661 _d20153661 |
||