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المؤلفون: Ravichandran S; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Hoffmann M; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Petersen J; Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark., Sjø L; Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Denmark., Rasmussen AØ; Department of Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Eidesgaard A; Department of Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Glenthøj A; Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

المصدر: Hemoglobin [Hemoglobin] 2024 Jul 09, pp. 1-4. Date of Electronic Publication: 2024 Jul 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 7705865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-432X (Electronic) Linking ISSN: 03630269 NLM ISO Abbreviation: Hemoglobin Subsets: MEDLINE

المؤلفون: Holme S; Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., van Wijk R; Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Rasmussen AØ; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., Petersen J; Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., Glenthøj A; Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark. andreas.glenthoej@regionh.dk.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. andreas.glenthoej@regionh.dk.

المصدر: Journal of medical case reports [J Med Case Rep] 2024 Mar 28; Vol. 18 (1), pp. 130. Date of Electronic Publication: 2024 Mar 28.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Anemia, Hemolytic* , Anemia, Hemolytic, Congenital Nonspherocytic*/diagnosis , Anemia, Hemolytic, Congenital Nonspherocytic*/genetics, Adult ; Female ; Humans ; Glucose ; Glucose-6-Phosphate Isomerase/genetics ; Phosphates

المؤلفون: Leinøe E; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Brøns N; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rasmussen AØ; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gabrielaite M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Zaninetti C; Department of Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany., Palankar R; Department of Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany., Zetterberg E; Coagulation Unit, Skaane University Hospital, Malmø, Sweden., Rosthøj S; Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark., Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

المصدر: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2021 Nov; Vol. 19 (11), pp. 2884-2892. Date of Electronic Publication: 2021 Aug 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE

مواضيع طبية MeSH: Bernard-Soulier Syndrome*/diagnosis , Bernard-Soulier Syndrome*/genetics , Thrombocytopenia*/diagnosis , Thrombocytopenia*/genetics, Denmark ; Homozygote ; Humans ; Pedigree ; Platelet Glycoprotein GPIb-IX Complex/genetics