Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An F-FDG PET/CT was performed on a 43-year-old woman with photosensitive skin rash, abnormal liver function, and pancytopenia, which demonstrated prominent hepatomegaly, splenomegaly, and diffuse liver F-FDG avidity. The liver biopsy revealed intrahepatic cholestasis with biliary fibrosis resulting from the deposition of protoporphyrin. X-linked erythroid-specific 5-aminolevulinate synthase gene analysis proved the diagnosis of X-linked protoporphyria.
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PMID:Diffuse 18F-FDG Avidity in Liver Associated With X-Linked Protoporphyria on PET/CT. 2989 36