Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia

A 35-year-old woman presented at 27-week gestation with hypertension and pedal edema. Antenatal scan showed hydrops fetalis and growth restriction. Cordocentesis showed severe fetal anemia. This was treated with multiple in utero blood transfusions with no clinically significant improvement and intr...

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Bibliographic Details
Main Authors: Ekta Bhutada (Author), Timothy Pyragius (Author), Scott G. Petersen (Author), Frans Niemann (Author), Admire Matsika (Author)
Format: Book
Published: Hindawi Limited, 2018-01-01T00:00:00Z.
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3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available