Pyruvate kinase deficiency in children

Background Pyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management. Methods An international, multicenter registry enrolled 124 individuals younger than 1...

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Veröffentlicht in:	Pediatric blood & cancer 2021-09, Vol.68 (9), p.e29148-n/a
Hauptverfasser:	Chonat, Satheesh, Eber, Stefan W., Holzhauer, Susanne, Kollmar, Nina, Morton, D. Holmes, Glader, Bertil, Neufeld, Ellis J., Yaish, Hassan M., Rothman, Jennifer A., Sharma, Mukta, Ravindranath, Yaddanapudi, Wang, Heng, Breakey, Vicky R., Sheth, Sujit, Bradeen, Heather A., Al‐Sayegh, Hasan, London, Wendy B., Grace, Rachael F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Anemia, Hemolytic, Congenital Nonspherocytic - diagnosis Anemia, Hemolytic, Congenital Nonspherocytic - genetics Anemia, Hemolytic, Congenital Nonspherocytic - therapy Blood transfusion Child Child, Preschool Children congenital hemolytic anemia Erythrocytes Fetuses Hematology Hemoglobin Hemolytic anemia Humans iron overload Jaundice Kinases Liver diseases Neonates Oncology Pediatrics Prospective Studies Pyruvate kinase Pyruvate Kinase - deficiency Pyruvate Metabolism, Inborn Errors - diagnosis Pyruvate Metabolism, Inborn Errors - genetics Pyruvate Metabolism, Inborn Errors - therapy Pyruvic acid Quality of Life Retrospective Studies Sepsis Splenectomy Thrombosis
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