COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
Tonduti, Davide
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. [electronic resource] - Neuropediatrics Oct 2012 - 283-8 p. digital
Publication Type: Case Reports; Journal Article
1439-1899
10.1055/s-0032-1325116 doi
Adolescent
Adult
Brain Diseases--genetics
Calcinosis--etiology
Cerebral Cortex--pathology
Child
Child, Preschool
Collagen Type IV--genetics
Creatine Kinase--metabolism
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation--genetics
Nerve Fibers, Myelinated--pathology
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. [electronic resource] - Neuropediatrics Oct 2012 - 283-8 p. digital
Publication Type: Case Reports; Journal Article
1439-1899
10.1055/s-0032-1325116 doi
Adolescent
Adult
Brain Diseases--genetics
Calcinosis--etiology
Cerebral Cortex--pathology
Child
Child, Preschool
Collagen Type IV--genetics
Creatine Kinase--metabolism
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation--genetics
Nerve Fibers, Myelinated--pathology