000 | 01615 a2200517 4500 | ||
---|---|---|---|
005 | 20250516110514.0 | ||
264 | 0 | _c20130325 | |
008 | 201303s 0 0 eng d | ||
022 | _a1439-1899 | ||
024 | 7 |
_a10.1055/s-0032-1325116 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aTonduti, Davide | |
245 | 0 | 0 |
_aCOL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. _h[electronic resource] |
260 |
_bNeuropediatrics _cOct 2012 |
||
300 |
_a283-8 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aBrain Diseases _xgenetics |
650 | 0 | 4 |
_aCalcinosis _xetiology |
650 | 0 | 4 |
_aCerebral Cortex _xpathology |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aCollagen Type IV _xgenetics |
650 | 0 | 4 |
_aCreatine Kinase _xmetabolism |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMagnetic Resonance Imaging |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aNerve Fibers, Myelinated _xpathology |
700 | 1 | _aPichiecchio, Anna | |
700 | 1 | _aLa Piana, Roberta | |
700 | 1 | _aLivingston, John H | |
700 | 1 | _aDoherty, Daniel A | |
700 | 1 | _aMajumdar, Anirban | |
700 | 1 | _aTomkins, Susan | |
700 | 1 | _aMine, Manuele | |
700 | 1 | _aCeroni, Mauro | |
700 | 1 | _aRicca, Ivana | |
700 | 1 | _aBalottin, Umberto | |
700 | 1 | _aOrcesi, Simona | |
773 | 0 |
_tNeuropediatrics _gvol. 43 _gno. 5 _gp. 283-8 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1055/s-0032-1325116 _zAvailable from publisher's website |
999 |
_c22062338 _d22062338 |