TY - JOUR
T1 - Radionuclide evaluation of a patient with neonatal presentation of Pompe's disease
AU - Lorber, A.
AU - Hardoff, R.
AU - Front, A.
PY - 1987
Y1 - 1987
N2 - Pompe's disease (glycogen storage disease type IIA) is a rare autosomal recessive metabolic disorder involving skeletal and heart muscle. A neonate in whom the diagnosis of Pompe's disease was suspected, was evaluated using Tc-99m RBC and Tl-201 scintigraphy. A skeletal muscle biopsy specimen that showed lack of lysosomal alpha 1,4 glycosidase confirmed the diagnosis. To the best of the authors' knowledge, this is the youngest patient with Pompe's disease in whom radionuclide evaluation was performed.
AB - Pompe's disease (glycogen storage disease type IIA) is a rare autosomal recessive metabolic disorder involving skeletal and heart muscle. A neonate in whom the diagnosis of Pompe's disease was suspected, was evaluated using Tc-99m RBC and Tl-201 scintigraphy. A skeletal muscle biopsy specimen that showed lack of lysosomal alpha 1,4 glycosidase confirmed the diagnosis. To the best of the authors' knowledge, this is the youngest patient with Pompe's disease in whom radionuclide evaluation was performed.
UR - http://www.scopus.com/inward/record.url?scp=0023597596&partnerID=8YFLogxK
U2 - 10.1097/00003072-198712000-00021
DO - 10.1097/00003072-198712000-00021
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AN - SCOPUS:0023597596
SN - 0363-9762
VL - 12
SP - 972
JO - Clinical Nuclear Medicine
JF - Clinical Nuclear Medicine
IS - 12
ER -