First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid α-glucosidase in chorionic villous biopsy using antibodies
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1986.tb00610.x/fullpdf
Reference6 articles.
1. Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy;Besanç;Clin. Genet.,1985
2. Two alpha-glucosidases in cultured amniotic fluid cells and their differentiation in the prenatal diagnosis of Pompe's disease;Fujimoto;Clin. Chim. Acta,1976
3. A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease);Galjaard;Clin. Chim. Acta,1973
4. α-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease);Hers;Biochem. J.,1963
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1. Inborn Errors of Carbohydrate Metabolism;Principles of Perinatal—Neonatal Metabolism;1998
2. Glycogenosis type II (acid maltase deficiency);Muscle & Nerve;1995
3. Prenatal diagnosis of Pompe's disease (type ii glycogenosis) in chorionic villus biopsy using maltose as a substrate;Prenatal Diagnosis;1992-03
4. Diagnosis of glycogen storage disease;Journal of Inherited Metabolic Disease;1990-07
5. Diagnosis of Glycogen Storage Disease;Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria;1990
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