| 000 | 01814 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515125633.0 | ||
| 264 | 0 | _c20081020 | |
| 008 | 200810s 0 0 eng d | ||
| 022 | _a1590-1874 | ||
| 024 | 7 |
_a10.1007/s10072-008-0931-4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFinsterer, Josef | |
| 245 | 0 | 0 |
_aNon-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition. _h[electronic resource] |
| 260 |
_bNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology _cJun 2008 |
||
| 300 |
_a173-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAmino Acid Substitution _xgenetics |
| 650 | 0 | 4 |
_aBase Sequence _xgenetics |
| 650 | 0 | 4 |
_aBiomarkers _xanalysis |
| 650 | 0 | 4 |
_aBlindness _xgenetics |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 10 _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Markers _xgenetics |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMixed Function Oxygenases _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNeural Conduction _xgenetics |
| 650 | 0 | 4 |
_aPhytanic Acid _xblood |
| 650 | 0 | 4 |
_aRefsum Disease _xenzymology |
| 650 | 0 | 4 |
_aRestless Legs Syndrome _xgenetics |
| 700 | 1 | _aRegelsberger, Günther | |
| 700 | 1 | _aVoigtländer, Till | |
| 773 | 0 |
_tNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology _gvol. 29 _gno. 3 _gp. 173-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10072-008-0931-4 _zAvailable from publisher's website |
| 999 |
_c18094393 _d18094393 |
||