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:1.3.99.3 (
acyl-CoA dehydrogenase
)
1,425
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A female patient with
medium-chain acyl-CoA dehydrogenase
(
MCAD
) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of
Rett syndrome
at 3.5 years.
...
PMID:Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency. 819 60
