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:C0028961 (
oliguria
)
1,847
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This paper concerns with two autopsied cases of siblings who died from cerebral disturbances. In these patients hyperammonemia developed in the neonatal phase due to
carbamyl phosphate synthetase I
(
CPS I
) deficiency. The patient in Case 1 was admitted 2 days after birth because of
oliguria
and vomiting. Hyperammonemia developed and she died on the 43rd day. In Case 2 hyperammonemia developed from the 2nd day after birth and she expired on the 42nd day. In both cases the diagnosis of CPS I deficiency was established from autopsy findings of the liver.
...
PMID:Siblings with carbamyl phosphate synthetase I deficiency. 648 4
