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:3.5.4.4 (
adenosine deaminase
)
5,136
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A boy aged 9 years presenting short stature and recurrent respiratory-tract infections was studied. The clinical and roentgenological pictures allowed the diagnosis of cartilage-hair hypoplasia (metaphyseal
chondrodysplasia
, McKusick type). Biochemical studies disclosed a four-fold increase in
adenosine deaminase
activity, but without evidence of anemia. Immunological evaluation showed abnormal cellular but normal humoral immunity.
...
PMID:Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia. 224 Oct 93
