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:C0015695 (
fatty liver
)
13,941
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mitochondrial trifunctional protein deficiency
, a recently identified disorder of fatty-acid oxidation, may show characteristic features such as peripheral neuropathy, pigmentary retinopathy, and acute
fatty liver
degeneration in pregnant women with an affected fetus. We describe a patient with trifunctional protein deficiency whose clinical picture consisted of severe calcium and phosphate abnormalities caused by hypoparathyroidism.
...
PMID:Hypoparathyroidism in mitochondrial trifunctional protein deficiency. 875 79
