| 000 | 02304 a2200697 4500 | ||
|---|---|---|---|
| 005 | 20250515064559.0 | ||
| 264 | 0 | _c20070510 | |
| 008 | 200705s 0 0 eng d | ||
| 022 | _a1526-632X | ||
| 024 | 7 |
_a10.1212/01.wnl.0000260061.37559.67 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGómez-Garre, P | |
| 245 | 0 | 0 |
_aHepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. _h[electronic resource] |
| 260 |
_bNeurology _cApr 2007 |
||
| 300 |
_a1369-73 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a1,4-alpha-Glucan Branching Enzyme _xgenetics |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 | _aDisease Progression |
| 650 | 0 | 4 |
_aDwarfism _xetiology |
| 650 | 0 | 4 | _aElectroencephalography |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 |
_aGlycogen Storage Disease Type IV _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLafora Disease _xcomplications |
| 650 | 0 | 4 |
_aLiver _xpathology |
| 650 | 0 | 4 |
_aLiver Cirrhosis _xetiology |
| 650 | 0 | 4 |
_aLiver Failure _xetiology |
| 650 | 0 | 4 | _aLiver Transplantation |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicrosatellite Repeats |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPeriodic Acid-Schiff Reaction |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
| 650 | 0 | 4 |
_aProtein Tyrosine Phosphatases _xgenetics |
| 650 | 0 | 4 | _aProtein Tyrosine Phosphatases, Non-Receptor |
| 650 | 0 | 4 |
_aSkin _xpathology |
| 650 | 0 | 4 | _aSpain |
| 650 | 0 | 4 | _aUbiquitin-Protein Ligases |
| 700 | 1 | _aGutiérrez-Delicado, E | |
| 700 | 1 | _aGómez-Abad, C | |
| 700 | 1 | _aMorales-Corraliza, J | |
| 700 | 1 | _aVillanueva, V E | |
| 700 | 1 | _aRodríguez de Córdoba, S | |
| 700 | 1 | _aLarrauri, J | |
| 700 | 1 | _aGutiérrez, M | |
| 700 | 1 | _aBerciano, J | |
| 700 | 1 | _aSerratosa, J M | |
| 773 | 0 |
_tNeurology _gvol. 68 _gno. 17 _gp. 1369-73 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/01.wnl.0000260061.37559.67 _zAvailable from publisher's website |
| 999 |
_c17002142 _d17002142 |
||