UNLABELLED: The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. CONCLUSION: Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the differential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.
UNLABELLED: The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. CONCLUSION:Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the differential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.
Authors: Maria Garcia-Gomez; Andrea Calabria; Maria Garcia-Bravo; Fabrizio Benedicenti; Penelope Kosinski; Sergio López-Manzaneda; Collin Hill; María Del Mar Mañu-Pereira; Miguel A Martín; Israel Orman; Joan-LLuis Vives-Corrons; Charles Kung; Axel Schambach; Shengfang Jin; Juan A Bueren; Eugenio Montini; Susana Navarro; Jose C Segovia Journal: Mol Ther Date: 2016-05-03 Impact factor: 11.454
Authors: Hanny Al-Samkari; Eduard J Van Beers; Kevin H M Kuo; Wilma Barcellini; Paola Bianchi; Andreas Glenthøj; María Del Mar Mañú Pereira; Richard Van Wijk; Bertil Glader; Rachael F Grace Journal: Haematologica Date: 2020-09-01 Impact factor: 9.941