Glycogen storage disease type I other diagnostic studies: Difference between revisions
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==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
The diagnosis is definitively confirmed by liver [[biopsy]] with [[electron microscopy]] and [[assay]] of [[glucose-6-phosphatase]] activity in the tissue and/or specific gene testing, available in recent years. | The diagnosis is definitively confirmed by liver [[biopsy]] with [[electron microscopy]] and [[assay]] of [[glucose-6-phosphatase]] activity in the tissue and/or specific gene testing, available in recent years. | ||
[[Prenatal diagnosis]] has been made by fetal [[liver biopsy]] at 18-22 weeks of gestation, but no fetal treatment has been proposed. Prenatal diagnosis is possible with fetal [[DNA]] obtained by [[chorionic villus sampling]] when a fetus is known to be at risk. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 00:07, 20 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Other Diagnostic Studies
The diagnosis is definitively confirmed by liver biopsy with electron microscopy and assay of glucose-6-phosphatase activity in the tissue and/or specific gene testing, available in recent years.
Prenatal diagnosis has been made by fetal liver biopsy at 18-22 weeks of gestation, but no fetal treatment has been proposed. Prenatal diagnosis is possible with fetal DNA obtained by chorionic villus sampling when a fetus is known to be at risk.