Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.
Bassuk
A G
AG
Division of Neurology/Department of Pediatrics, Children's Memorial Hospital, Chicago, IL 60614, USA. abassuk@childrensmemorial. org
Joshi
A
A
Burton
B K
BK
Larsen
M B
MB
Burrowes
D M
DM
Stack
C
C
D000142:Acidosis, Respiratory / Q000209:etiology; D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D001479:Basal Ganglia / Q000378:metabolism / Q000473:pathology; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004569:Electroencephalography; D017809:Fatal Outcome; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006257:Head / Q000002:abnormalities; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000378:metabolism; D050356:Lipid Metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009154:Mutation; D012640:Seizures / Q000209:etiology
D005904:Glial Fibrillary Acidic Protein; D019344:Lactic Acid; D003401:Creatine; D002794:Choline