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:1.16.3.1 (
ceruloplasmin
)
5,074
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Pantothenate kinase 2
deficiency (previously known as Hallervorden-Spatz disease) is an unusual metabolic disorder characterized by progressive extrapyramidal dysfunction and dementia. A 27-year-old Caucasian presented with a major depression disorder and social phobia since adolescence. Patient had marked paranoia, auditory hallucinations, extrapyramidal dysfunction, poor memory, and gait abnormality. Laboratory tests including serum copper and
ceruloplasmin
were all normal. Magnetic resonance imaging (MRI) examination of the brain played an important role in the diagnosis in this patient.
...
PMID:Pantothenate kinase 2 deficiency: A neurodegeneration with brain iron accumulation. 2730 30
