title: Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
authors: Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain.
authors: María Del Mar
authors: Mdel M
authors: Mañú-Pereira
authors: Immunology Department, Hospital Clínic, IDIBAPS, Barcelona, Spain.
authors: Eva
authors: E
authors: Gonzalez-Roca
authors: Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, the Netherlands.
authors: Wouter W
authors: WW
authors: van Solinge
authors: Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain.
authors: Esther
authors: E
authors: Llaudet-Planas
authors: Department of Pediatrics, Hospital Niño Jesús, Madrid, Spain.
authors: Julián
authors: J
authors: Sevilla
authors: Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain.
authors: Laura
authors: L
authors: Montllor
authors: Immunology Department, Hospital Clínic, IDIBAPS, Barcelona, Spain.
authors: Anna
authors: A
authors: Mensa-Vilaro
authors: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
authors: Hans Kristian
authors: HK
authors: Ploos van Amstel
authors: Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, the Netherlands.
authors: Richard
authors: R
authors: van Wijk
authors: Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain.
authors: JoanLluis
authors: J
authors: Vives-Corrons
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000235:genetics* / Q000378:metabolism*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics* / Q000378:metabolism*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D018812:Paternal Exposure; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D015323:Pyruvate Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism*
chemical_list: D011770:Pyruvate Kinase