| 000 | 01683 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250515203413.0 | ||
| 264 | 0 | _c20100623 | |
| 008 | 201006s 0 0 eng d | ||
| 022 | _a1873-2364 | ||
| 024 | 7 |
_a10.1016/j.nmd.2009.11.004 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEchaniz-Laguna, Andoni | |
| 245 | 0 | 0 |
_aMuscle phosphorylase b kinase deficiency revisited. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _cFeb 2010 |
||
| 300 |
_a125-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAmino Acid Sequence _xgenetics |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 |
_aBrain _xenzymology |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 |
_aCognition Disorders _xenzymology |
| 650 | 0 | 4 |
_aCreatine Kinase _xblood |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectromyography |
| 650 | 0 | 4 |
_aExercise Tolerance _xgenetics |
| 650 | 0 | 4 |
_aGlycogen Storage Disease Type V _xcomplications |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xenzymology |
| 650 | 0 | 4 |
_aIntelligence _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle Weakness _xenzymology |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xenzymology |
| 650 | 0 | 4 |
_aPhosphorylase Kinase _xdeficiency |
| 650 | 0 | 4 |
_aProtein Subunits _xgenetics |
| 700 | 1 | _aAkman, Hasan O | |
| 700 | 1 | _aMohr, Michel | |
| 700 | 1 | _aTranchant, Christine | |
| 700 | 1 | _aTalmant-Verbist, Violaine | |
| 700 | 1 | _aRolland, Marie-Odile | |
| 700 | 1 | _aDimauro, Salvatore | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 20 _gno. 2 _gp. 125-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2009.11.004 _zAvailable from publisher's website |
| 999 |
_c19457728 _d19457728 |
||