Prenatal diagnosis of Pompe's disease (type ii glycogenosis) in chorionic villus biopsy using maltose as a substrate

1992 ◽  
Vol 12 (3) ◽  
pp. 169-173 ◽  
Author(s):  
Hae K. Park ◽  
Helen H. Kay ◽  
Allyn McConkie-Rosell ◽  
Joe Lanman ◽  
Yuan-Tsong Chen
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Disease Type ◽  
Type Ii ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Chorionic Villus Biopsy ◽  
Type Ii Glycogenosis

scholarly journals Prenatal Diagnosis of Type II Glycogenosis (Pompe's Disease) Using Microchemical Analyses

1975 ◽  
Vol 9 (5) ◽  
pp. 498-503 ◽  
Author(s):  
M F Niermeijer ◽  
J F Koster ◽  
M Jahodova ◽  
J Fernandes ◽  
M J Heukels-Dully ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Type Ii ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Type Ii Glycogenosis

Administration of a Mixture of Fungal Glucosidases to a Patient with Type II Glycogenosis (Pompe's Disease)

PEDIATRICS ◽  
1968 ◽  
Vol 42 (4) ◽  
pp. 672-676
Author(s):  
Ronald M. Lauer ◽  
Thelma Mascarinas ◽  
Antonio S. Racela ◽  
Antoni M. Diehl ◽  
Barbara Illingworth Brown
Keyword(s):  
Skeletal Muscle ◽  
Enzyme Assay ◽  
Glycogen Content ◽  
Hydrolytic Enzymes ◽  
Type Ii ◽  
Electron Microscopic ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Type Ii Glycogenosis

A case of Type II glycogenosis (Pompe's disease) has been studied by histochemical, electron microscopic, and biochemical techniques. These studies have been made prior to and after the intramuscular administration for 1 week of a mixture of hydrolytic enzymes containing both α-1,4- and α-1,6-glucosidase activities. Electron photomicrographs of the liver before enzyme administration showed glycogen to be located both within and outside of membrane-limited vacuoles. No change in this distribution could be detected in tissue removed by biopsy after enzyme administration. This impression was confirmed by the determination of glycogen content which was shown to be unchanged. Nevertheless, the liver was found by enzyme assay to contain the administered enzyme. Leucocytes isolated from blood taken 4 hours after the last enzyme injection were also shown to contain the parenterally administered glucosidases. In skeletal muscle glycogen was present chiefly as extrasaccular deposits which were unchanged in appearance by enzyme administration. No glucosidase activity was demonstrable in the skeletal muscle after such a treatment. Myocardium sectioned after autopsy had major deposits of glycogen in extrasaccular areas.

Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy

2008 ◽  
Vol 27 (5) ◽  
pp. 479-482 ◽  
Author(s):  
Anne-Marie Besançon ◽  
Laetitia Castelnau ◽  
Henriette Nicolesco ◽  
Yves Dumez ◽  
Livia Poenaru
Keyword(s):  
Prenatal Diagnosis ◽  
Type Ii ◽  
Chorionic Villi ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii
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