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Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II.
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- Author(s): San Millan B;San Millan B; Teijeira S; Domínguez C; Vieitez I; Navarro C
- Source:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Dec; Vol. 33 Suppl 3, pp. S105-11. Date of Electronic Publication: 2010 Feb 16.
- Publication Type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
- Language:
English
- Additional Information
- Source:
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
- Publication Information:
Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: [Lancaster, Eng.] MTP Press.
- Subject Terms:
- Abstract:
Objective: To perform the ultrastructural examination of a chorionic villi biopsy as a predictor of foetal involvement in the infantile form of glycogenosis type II (Pompe disease).
Methods: Ultrastructural, biochemical and genetic analyses were performed on chorionic villi biopsies of three consecutive pregnancies in a woman with a previous child affected by Pompe disease.
Results: In the only affected foetus, glycogen storage was observed in fibrocytes and endothelial cells of a chorionic villi sample at 11 week's gestation. Severe multi-organ involvement was demonstrated in the tissues of the aborted foetus. No abnormal material was found in the chorionic samples of two subsequent pregnancies, and a healthy boy and girl were born at term and remain unaffected. Both exhibited a partial reduction in acid maltase and were carriers of the maternal mutation.
Conclusions: Ultrastructural findings correlated with biochemical and genetic results, providing a clear and early indicator of the definite diagnosis for future pregnancy management or an early therapeutic approach.
- Molecular Sequence:
OMIM OMIM232300
- Accession Number:
9005-79-2 (Glycogen)
EC 3.2.1.20 (GAA protein, human)
EC 3.2.1.20 (alpha-Glucosidases)
- Publication Date:
Date Created: 20100217 Date Completed: 20140408 Latest Revision: 20190114
- Publication Date:
20221213
- Accession Number:
10.1007/s10545-009-9033-6
- Accession Number:
20157781
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