Determination of acid α-glucosidase activity in blood spots as a diagnostic test for Pompe disease

Clinical Chemistry

Volumn 47, Issue 8, 2001, Pages 1378-1383

  Umapathysivam, K ^a   Hopwood, J J ^a   Meikle, P J ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DIAGNOSTIC ACCURACY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME REPLACEMENT; FIBROBLAST CULTURE; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MUSCLE BIOPSY; NEWBORN; NEWBORN SCREENING;

EID: 0034911699     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/47.8.1378     Document Type: Article

References (25)

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4. Prevalence of lysosomal storage disorders
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7. Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail
8. Towards a molecular therapy for glycogen storage disease type II (Pompe disease)
9. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
10. Human acid α-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
11. Retroviral transfer of acid α-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion
12. Complete correction of acid α-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle
13. Adenovirus-mediated transfer of the acid α-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation
14. Approach to gene therapy of glycogenosis type II (Pompe disease)
15. Modulation of disease severity in mice with targeted disruption of the acid α-glucosidase gene
16. α-Glucosidase activity in human leucocytes: Choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state
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18. Demonstration of acid α-glucosidase in different types of Pompe disease by use of an immunochemical method
19. A diagnostic protocol for adult-onset glycogen storage disease type II
20. Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-α-glucosidase in human fetal and adult tissues and cultured cells
21. Use of immobilized antibodies in investigating acid α-glucosidase in urine in relation to Pompe's disease
22. Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate
23. First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: Assay of acid α-glucosidase in chorionic villous biopsy using antibodies
24. Prenatal diagnosis of glycogen storage disease type II: Enzyme assay or mutation analysis?
25. Determination of acid α-glucosidase protein: Evaluation as a screening marker for Pompe disease and other lysosomal storage disorders