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:3.5.1.12 (
biotinidase
)
392
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Erythrocyte transfusion can impair detection of sickle-cell disease, galactosemia, or
biotinidase
deficiency with newborn screening. We report on 4 infants with
SCD
in whom delayed diagnosis was associated with neonatal transfusion. In 2 cases, the initial newborn screening showed no hemoglobin S. In no case was the recommended screening >/=120 days from the last transfusion obtained. Two children had significant
SCD
-related morbidity before diagnosis.
...
PMID:Sickle-cell disease not identified by newborn screening because of prior transfusion. 1065 16
