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: EC:1.17.1.4 (
xanthine dehydrogenase
)
1,236
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Molybdenum cofactor deficiency leads to combined deficiency of sulfite oxidase,
xanthine dehydrogenase
, and aldehyde oxidase enzyme activities. The major clinic symptom is intractable seizures seen soon after birth. No definite therapy is available. We report here a newborn with molybdenum cofactor deficiency-associated
Dandy-Walker malformation
who presented with severe lactic acidosis and intracranial hemorrhage.
...
PMID:Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. 1579 86
