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