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Journal Article
Blood, ISSN 0006-4971, 05/2013, Volume 121, Issue 19, pp. 3925 - 3935
Journal Article
Journal Article
European Journal of Haematology, ISSN 0902-4441, 09/2018, Volume 101, Issue 3, pp. 297 - 304
BackgroundMost patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias,... 
red cell disorders | DYSERYTHROPOIETIC ANEMIA | HEREDITARY STOMATOCYTOSIS | GENE | RECOMMENDATIONS | PIEZO1 | PYRUVATE-KINASE DEFICIENCY | SPLENECTOMY | MUTATIONS | HEMATOLOGY | BONE-MARROW FAILURE | NONSPHEROCYTIC HEMOLYTIC-ANEMIA | Genetic Testing | Anemia - blood | Anemia, Hemolytic, Congenital Nonspherocytic - diagnosis | Humans | Anemia, Dyserythropoietic, Congenital - diagnosis | Child, Preschool | Pyruvate Metabolism, Inborn Errors - genetics | Erythrocyte Indices | Male | Young Adult | Hydrops Fetalis - genetics | Anemia, Sideroblastic - diagnosis | Pyruvate Metabolism, Inborn Errors - diagnosis | Adult | Female | Child | Genetic Predisposition to Disease | Anemia, Dyserythropoietic, Congenital - therapy | Genetic Association Studies | Hydrops Fetalis - diagnosis | Anemia - diagnosis | Anemia, Dyserythropoietic, Congenital - genetics | Computational Biology | Anemia - therapy | Rare Diseases | Anemia, Hemolytic, Congenital - genetics | Pyruvate Kinase - deficiency | Anemia - congenital | Anemia, Sideroblastic - genetics | Anemia, Hemolytic, Congenital - diagnosis | Bone Marrow - pathology | Adolescent | High-Throughput Nucleotide Sequencing | Mutation | Pyruvate Kinase - genetics | Anemia, Hemolytic, Congenital Nonspherocytic - genetics | Anemia | Genetic disorders | Medical genetics | Phenotypes | Genetic counseling | Pyruvate kinase | Pyruvic acid | Sideroblastic anemia | Diagnosis | Kinases | Genetic screening | Index Medicus
Journal Article
[Rinsho ketsueki] The Japanese journal of clinical hematology, ISSN 0485-1439, 2016, Volume 57, Issue 10, p. 1908
Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of... 
Erythrocytes - pathology | Anemia, Hemolytic, Congenital - diagnosis | Humans | Anemia, Hemolytic, Congenital - genetics | Erythrocytes - metabolism
Journal Article
Journal Article
Journal Article
Blood, ISSN 0006-4971, 09/2015, Volume 126, Issue 11, pp. 1273 - 1280
Journal Article