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Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.
Publication
, Journal Article
Park, HK; Kay, HH; McConkie-Rosell, A; Lanman, J; Chen, YT
Published in: Prenat Diagn
March 1992
Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8-12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester.
Duke Scholars
Published In
Prenat Diagn
DOI
ISSN
0197-3851
Publication Date
March 1992
Volume
12
Issue
3
Start / End Page
169 / 173
Location
England
Related Subject Headings
- alpha-Glucosidases
- Time Factors
- Pregnancy Trimester, First
- Pregnancy
- Obstetrics & Reproductive Medicine
- Maltose
- Hydrogen-Ion Concentration
- Humans
- Glycogen Storage Disease Type II
- Female
Citation
APA
Chicago
ICMJE
MLA
NLM
Park, H. K., Kay, H. H., McConkie-Rosell, A., Lanman, J., & Chen, Y. T. (1992). Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate. Prenat Diagn, 12(3), 169–173. https://doi.org/10.1002/pd.1970120305
Park, H. K., H. H. Kay, A. McConkie-Rosell, J. Lanman, and Y. T. Chen. “Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.” Prenat Diagn 12, no. 3 (March 1992): 169–73. https://doi.org/10.1002/pd.1970120305.
Park HK, Kay HH, McConkie-Rosell A, Lanman J, Chen YT. Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate. Prenat Diagn. 1992 Mar;12(3):169–73.
Park, H. K., et al. “Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.” Prenat Diagn, vol. 12, no. 3, Mar. 1992, pp. 169–73. Pubmed, doi:10.1002/pd.1970120305.
Park HK, Kay HH, McConkie-Rosell A, Lanman J, Chen YT. Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate. Prenat Diagn. 1992 Mar;12(3):169–173.
![Journal cover image](https://secure.syndetics.com/index.aspx?isbn=/lc.gif&issn=0197-3851&client=dukeuniv)
Published In
Prenat Diagn
DOI
ISSN
0197-3851
Publication Date
March 1992
Volume
12
Issue
3
Start / End Page
169 / 173
Location
England
Related Subject Headings
- alpha-Glucosidases
- Time Factors
- Pregnancy Trimester, First
- Pregnancy
- Obstetrics & Reproductive Medicine
- Maltose
- Hydrogen-Ion Concentration
- Humans
- Glycogen Storage Disease Type II
- Female