Tonduti, Davide <br/><br/>
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.  [electronic resource] 

 -  Neuropediatrics  Oct 2012 
 - 283-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1439-1899 
<br/><br/><label>Standard No.: </label>10.1055/s-0032-1325116  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Brain Diseases--genetics<br/>Calcinosis--etiology<br/>Cerebral Cortex--pathology<br/>Child<br/>Child, Preschool<br/>Collagen Type IV--genetics<br/>Creatine Kinase--metabolism<br/>Female<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Middle Aged<br/>Mutation--genetics<br/>Nerve Fibers, Myelinated--pathology