المؤلفون: Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center (UMC), location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Department of Blood Cell Research, Sanquin, University of Amsterdam, Amsterdam, The Netherlands., de Vries ACH; Department of Pediatric Oncology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Leeuwen EM; Department of Experimental Immunology (EXIM), Amsterdam UMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Laboratory of Immunology, AUMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Ermens ATAM; Department of Clinical Chemistry, Amphia Hospital, Breda, The Netherlands., de Pont S; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Wamelink MMC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Nelen MR; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Lango Allen H; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom., Pals ST; Department of Pathology, Amsterdam UMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Beverloo BHB; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands.

المصدر: Blood advances [Blood Adv] 2022 Nov 22; Vol. 6 (22), pp. 5829-5834.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia* , Anemia*, Humans ; Homozygote ; Mutation