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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Detalles Bibliográficos
Autores principales: Bhutada, Ekta, Pyragius, Timothy, Petersen, Scott G., Niemann, Frans, Matsika, Admire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966689/
https://www.ncbi.nlm.nih.gov/pubmed/29854527
http://dx.doi.org/10.1155/2018/2549451

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