Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0917798 (
cerebral ischemia
)
17,036
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report CT and MRI findings in a girl with late-onset
ornithine transcarbamylase deficiency
, who presented with progressive somnolence. Both imaging methods showed signs of an acute
cerebral ischaemia
with new defects on follow-up. Despite an unusual clinical presentation, laboratory studies led to the diagnosis of this rare inherited metabolic defect.
...
PMID:CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report. 895 9
