Literature DB >> 3140685

Diamond-Blackfan syndrome: an unusual cause of hydrops fetalis.

P G Scimeca1, M E Weinblatt, G Slepowitz, R G Harper, J A Kochen.   

Abstract

An unusual case of Diamond-Blackfan syndrome whose initial presentation was hydrops fetalis is presented. Diamond-Blackfan syndrome and the pathophysiology of hydrops fetalis in severely anemic infants are briefly reviewed.

Entities:  

Mesh：

Year:  1988        PMID： 3140685

Source DB:  PubMed          Journal:  Am J Pediatr Hematol Oncol        ISSN： 0192-8562


  2 in total

1.  Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

Authors:  Marcin W Wlodarski; Lydie Da Costa; Marie-Françoise O'Donohue; Marc Gastou; Narjesse Karboul; Nathalie Montel-Lehry; Ina Hainmann; Dominika Danda; Amina Szvetnik; Victor Pastor; Nahuel Paolini; Franca M di Summa; Hannah Tamary; Abed Abu Quider; Anna Aspesi; Riekelt H Houtkooper; Thierry Leblanc; Charlotte M Niemeyer; Pierre-Emmanuel Gleizes; Alyson W MacInnes
Journal:  Haematologica       Date:  2018-03-29       Impact factor: 9.941

2.  Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report.

Authors:  Ye Seul Yoo; Na Hee Lee; Young Bae Choi
Journal:  Medicine (Baltimore)       Date:  2019-09       Impact factor: 1.817
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.