UOBScholar Hub
UOB Libraries created the UOBScholar Hub, an Institutional Repository (IR) for archiving and collecting all the research output of the UOB community. It aims to improve the visibility, usage and impact of research conducted at UOB. Materials included are: academic journal articles, conference papers and presentations, books and book chapters, ongoing research papers, reports and patents.
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https://scholarhub.balamand.edu.lb/handle/uob/5692| Title: | A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment | Authors: | Farah, Roula A Kamel, Lojine Roy, Noemi Proven, Melanie Wray, Katherine Roberts, Irene Wlodarski, Marcin W |
Affiliations: | Faculty of Medicine | Keywords: | Congenital anemias Congenital bone marrow failure syndromes DBA | Diamond-Blackfan anemia Hematopoietic stem cell transplantation HSCT Novel mutations Ribosomal protein gene mutations RPL5 |
Issue Date: | 2020 | Part of: | Journal of Pediatric Hematology/Oncology | Volume: | 42 | Issue: | 4 | Start page: | e235 | End page: | e237 | Abstract: | Diamond-Blackfan Anemia (DBA) is a rare inherited form of pure red cell aplasia that usually manifests in infancy or early childhood, and is characterized by normochromic macrocytic anemia and bone marrow erythroblastopenia. The majority of DBA cases are associated with mutations in ribosomal protein genes. Here, we describe a Lebanese girl with RPL5-mutated DBA unresponsive to steroid treatment who died from complications following late hematopoietic stem cell transplantation performed at the age of 15 years. |
URI: | https://scholarhub.balamand.edu.lb/handle/uob/5692 | ISSN: | 10774114 | DOI: | 10.1097/MPH.0000000000001435 | Open URL: | Link to full text | Type: | Journal Article |
| Appears in Collections: | Faculty of Medicine |
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