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:3.2.1.20 (
alpha-glucosidase
)
4,237
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report a term infant with Pompe disease presenting in the immediate newborn period. The infant was born at 40 weeks' gestation, weighing 3600 g to a 32 year-old black female. Infant presented at delivery with massive hypertrophic cardiomyopathy and
pulmonary hypertension
. Diagnosis was confirmed by low
alpha-glucosidase
activity. The histopathology and electron microscopic findings were consistent with Pompe disease. This is the second reported case of Pompe disease presenting at delivery.
...
PMID:A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth. 1253 Jan 10
