Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
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Query: UMLS:C0029089 (
ophthalmoplegia
)
3,338
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Fluctuating
ophthalmoplegia
in the neonatal period is unusual. We report two infants, one with branched-chain keto-aminoaciduria, the other with
nonketotic hyperglycinemia
, who demonstrated varying degrees of
ophthalmoplegia
. In one, the abnormalities of extraocular motility best correlated with elevations of serum leucine. In the other case, increased CSF glycine was implicated. Varying
ophthalmoplegia
during the neonatal period should alert the clinician to consider an underlying metabolic disorder.
...
PMID:Ophthalmoplegia as a sign of metabolic disease in the newborn. 56 11
