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The prenatal determination of glucose-6-phosphatase activity by fetal liver biopsy |
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| Authors: | Dr Mitchell S Golbus Thomas J Simpson Mitsuhiko Koresawa Zvi Appelman Charles E Alpers |
| Institution: | 1. Department of Pediatrics, University of California, San Francisco, California, U.S.A.;2. Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, California, U.S.A.;3. Department of Pathology, University of California, San Francisco, California, U.S.A. |
| Abstract: | Two fetuses at risk for glucose-6-phosphatase deficiency had in utero liver biopsies. Analysis of each showed this enzyme activity to be in the normal range and the pregnancies continued. Neither child has any clinical or metabolic evidence of glucose-6-phosphatase deficiency. |
| Keywords: | Prenatal diagnosis Glucose-6-phosphatase Glycogen storage disease Ia Von Gierke disease |