Article
Prenatal diagnosis of glycogen storage disease type IV.
Prenatal diagnosis - 1 Oct 2006
Akman H Orhan, Karadimas Charalampos, Gyftodimou Yolanda, Grigoriadou Maria, Kokotas Haris, Konstantinidou Anastasia, Anninos Hector, Patsouris Efstratios, Thaker Harshwardhan M, Kaplan Jeffrey B, Besharat Isaam, Hatzikonstantinou Konstantina, Fotopoulos Spyridon, Dimauro Salvatore, Petersen Michael B
Abstract excerpt
BACKGROUND: Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the glycogen branching enzyme (GBE). Prenatal diagnosis has occasionally been performed by the measurement of the GBE activity in cultured chorionic villi (CV) cells. METHODS: Two unrelated probands with severe hypotonia at birth and death during the neonatal period...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.