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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Svaton, Michael; Skvarova Kramarzova, Karolina; Kanderova, Veronika; Mancikova, Andrea; Smisek, Petr; Jesina, Pavel; Krijt, Jakub; Stiburkova, Blanka; Dobrovolny, Robert; Sokolova, Jitka; Bakardjieva-Mihaylova, Violeta; Vodickova, Elena; Rackova, Marketa; Stuchly, Jan; Kalina, Tomas; Stary, Jan; Trka, Jan; Fronkova, Eva; Kozich, Viktor.
Afiliação
  • Svaton M; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Skvarova Kramarzova K; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Kanderova V; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Mancikova A; Department of Cell Biology, Faculty of Science, Charles University, Prague, Czech Republic.
  • Smisek P; Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Jesina P; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Krijt J; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Stiburkova B; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Dobrovolny R; Institute of Rheumatology, Prague, Czech Republic; and.
  • Sokolova J; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Bakardjieva-Mihaylova V; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Vodickova E; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Rackova M; Department of Clinical Hematology, University Hospital Motol, Prague, Czech Republic.
  • Stuchly J; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Kalina T; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Stary J; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Trka J; Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Fronkova E; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Kozich V; Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
Blood ; 135(26): 2427-2431, 2020 06 25.
Article em En | MEDLINE | ID: mdl-32276275
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiper-Homocisteinemia / Ácido Fólico / Trocador 1 de Sódio-Hidrogênio / Anemia Megaloblástica Limite: Adolescent / Humans / Male Idioma: En Revista: Blood Ano de publicação: 2020 Tipo de documento: Article País de afiliação: República Tcheca
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiper-Homocisteinemia / Ácido Fólico / Trocador 1 de Sódio-Hidrogênio / Anemia Megaloblástica Limite: Adolescent / Humans / Male Idioma: En Revista: Blood Ano de publicação: 2020 Tipo de documento: Article País de afiliação: República Tcheca