Article
Placental involvement in glycogen storage disease type IV.
Placenta - 1 Apr 2008
Konstantinidou A E, Anninos H, Dertinger S, Nonni A, Petersen M, Karadimas C, Havaki S, Marinos E, Akman H O, DiMauro S, Patsouris E
Abstract excerpt
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen branching enzyme (GBE) deficiency and resulting in the storage of abnormal glycogen (polyglucosan). Prenatal diagnosis is based on biochemical assay of GBE activity or on mutation analysis, but polyglucosan can also be identified histologically in fetal tissues. We document placental involvement at 25 and 35 weeks...
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