Bleeding spectrum in children with moderate or severe von Willebrand disease: Relevance of pediatric-specific bleeding

Autor: Sanders, Yvonne, Fijnvandraat, K, Boender, Johan, Mauser-Bunschoten, EP, van der Bom, JG (Anske), de Meris, J, Smiers, FJ, Granzen, B, Brons, P, Tamminga, RYJ, Cnossen, Marjon, Leebeek, Frank

Publikováno v: American journal of hematology, 90(12), 1142-1148. Wiley-Liss Inc.
American Journal of Hematology, 90(12), 1142-1148. Wiley
American Journal of Hematology, 90(12), 1142. Wiley-Liss Inc.
American Journal of Hematology, 90(12), 1142-1148. Wiley-Liss Inc.

The bleeding phenotype of children with von Willebrand disease (VWD) needs to be characterized in detail to facilitate diagnosis during childhood and aid in the planning and assessment of treatment strategies. The objective was to evaluate the occurr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9bdc364ce47e061a7b05e62bd3a692c2
https://pure.amc.nl/en/publications/bleeding-spectrum-in-children-with-moderate-or-severe-von-willebrand-disease-relevance-of-pediatricspecific-bleeding(755dd84f-8cb0-4983-8395-679ca87f29ba).html

A boy with joint pain associated with emicizumab treatment: The importance of plasma level measurement.

Autor: Hooimeijer HL; Department of Paediatric Haematology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Lukens MV; Department of Laboratory Medicine, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Verhagen MV; Department of Radiology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Meijer K; Department of Internal Haematology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Stein-Wit MA; Department of Paediatric Haematology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Tamminga RYJ; Department of Paediatric Haematology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands.

Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2020 May; Vol. 26 (3), pp. e138-e140. Date of Electronic Publication: 2020 Apr 16.

The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.

Autor: Blaauwgeers MW; Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands., van Asten I; Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.; Van Creveld Laboratory, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.; Center for Circulatory Health, Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands., Kruip MJHA; Department of Haematology, Erasmus University Medical Center, Rotterdam, The Netherlands., Beckers EAM; Department of Hematology, Maastricht University Medical Center, Maastricht, The Netherlands., Coppens M; Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, location AMC, Amsterdam, The Netherlands., Eikenboom J; Department of Internal Medicine, division of Thrombosis and Haemostasis, Leiden University Medical Center, Leiden, The Netherlands., van Galen KPM; Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands., Huisman A; Center for Circulatory Health, Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands., Korporaal SJA; Center for Circulatory Health, Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.; Laboratory of Experimental Cardiology, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands., Ploos van Amstel HK; Department of Medical Genetics, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands., Tamminga RYJ; Department of Pediatric Hematology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands., Urbanus RT; Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.; Van Creveld Laboratory, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands., Schutgens REG; Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

Publikováno v: American journal of hematology [Am J Hematol] 2020 Jan; Vol. 95 (1), pp. E26-E28. Date of Electronic Publication: 2019 Nov 13.

Sickle cell disease: Clinical presentation and management of a global health challenge.

Autor: Houwing ME; Department of Paediatric Haematology, Erasmus University Medical Center - Sophia Children's Hospital, Wytemaweg 80, 3015, CN, Rotterdam, the Netherlands. Electronic address: M.houwing@erasmusmc.nl., de Pagter PJ; Department of Paediatric Haematology, Erasmus University Medical Center - Sophia Children's Hospital, Wytemaweg 80, 3015, CN, Rotterdam, the Netherlands. Electronic address: P.depagter@erasmusmc.nl., van Beers EJ; Department of Internal Medicine and Dermatology, Van Creveldkliniek, University Medical Center Utrecht, Internal mail no C.01.412, 3508, GA, Utrecht, the Netherlands. Electronic address: E.j.vanbeers-3@umcutrecht.nl., Biemond BJ; Department of Internal Medicine and Clinical Haematology, Amsterdam University Medical Centers, Meibergdreef 9, 1105, AZ, Amsterdam, the Netherlands. Electronic address: B.j.biemond@amc.uva.nl., Rettenbacher E; Department of Paediatric Haematology, Radboud University Medical Center - Amalia Children's Hospital, Geert Grooteplein Zuid 10, 6500, HB, Nijmegen, the Netherlands. Electronic address: Eva.rettenbacher@radboudumc.nl., Rijneveld AW; Department of Haematology, Erasmus University Medical Center, Wytemaweg 80, 3015, CN, Rotterdam, the Netherlands. Electronic address: A.rijneveld@erasmusmc.nl., Schols EM; Department of Haematology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands. Electronic address: Saskia.schols@radboudmumc.nl., Philipsen JNJ; Department of Cell Biology, Erasmus University Medical Center, Wytemaweg 80, 3015, CN, Rotterdam, the Netherlands. Electronic address: J.philipsen@erasmusmc.nl., Tamminga RYJ; Department of Paediatric Oncology and Haematology, University Medical Center Groningen - Beatrix Children's Hospital, Postbus 30001, 9700, RB, Groningen, the Netherlands.. Electronic address: R.y.j.tamminga@umcg.nl., van Draat KF; Department of Paediatric Haematology, Amsterdam University Medical Centers - Emma Children's Hospital, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands; Department of Plasma Proteins, Sanquin Research, the Netherlands. Electronic address: C.j.fijnvandraat@amc.uva.nl., Nur E; Department of Internal Medicine and Clinical Haematology, Amsterdam University Medical Centers, Meibergdreef 9, 1105, AZ, Amsterdam, the Netherlands. Electronic address: E.nur@amc.uva.nl., Cnossen MH; Department of Paediatric Haematology, Erasmus University Medical Center - Sophia Children's Hospital, Wytemaweg 80, 3015, CN, Rotterdam, the Netherlands. Electronic address: M.cnossen@erasmusmc.nl.

Publikováno v: Blood reviews [Blood Rev] 2019 Sep; Vol. 37, pp. 100580. Date of Electronic Publication: 2019 May 20.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Autor: Riley LG; Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Australia., Heeney MM; Dana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Rudinger-Thirion J; Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France., Frugier M; Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France., Campagna DR; Department of Pathology, Boston Children's Hospital, Boston, MA, USA., Zhou R; Dana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA., Hale GA; Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA., Hilliard LM; Division of Pediatric Hematology Oncology, University of Alabama at Birmingham, AL, USA., Kaplan JA; Levine Children's Hospital, Charlotte, NC, USA., Kwiatkowski JL; The Children's Hospital of Philadelphia, Division of Hematology, Philadelphia, PA, USA.; University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Sieff CA; Dana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Steensma DP; Adult Leukemia Program, Dana-Farber Cancer Institute, Boston, MA, USA.; Harvard Medical School, Boston, MA USA., Rennings AJ; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands., Simons A; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands., Schaap N; Department of Hematology, Radboud University Medical Centre, Nijmegen, the Netherlands., Roodenburg RJ; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands., Arenillas L; Laboratorio Citología Hematológica, Servicio Patología, GRETNHE, IMIM Hospital del Mar Research Institute, Hospital del Mar, Barcelona, Spain., Fita-Torró J; Iron metabolism: regulation and disease group, Josep Carreras Leukaemia Research Institute (IJC), Campus ICO-Germans Trias i Pujol, Campus Can Ruti, Carretera de Can Ruti, Cami de les Escoles, Badalona, Spain., Ahmed R; Department of Pediatrics and Adolescents, American University of Beirut Medical Center, Beirut, Lebanon., Abboud M; Department of Pediatrics and Adolescents, American University of Beirut Medical Center, Beirut, Lebanon., Bechara E; Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon., Farah R; Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon., Tamminga RYJ; Beatrix Children's Hospital, Department of Pediatric Hematology, University Medical Center Groningen, University of Groningen, the Netherlands., Bottomley SS; Department of Medicine, University of Oklahoma College of Medicine, Oklahoma City, OK, USA., Sanchez M; Iron metabolism: regulation and disease group, Josep Carreras Leukaemia Research Institute (IJC), Campus ICO-Germans Trias i Pujol, Campus Can Ruti, Carretera de Can Ruti, Cami de les Escoles, Badalona, Spain.; Programme of Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Badalona, Spain.; BloodGenetics, S.L., Esplugues de Llobregat, Barcelona, Spain., Huls G; Department of Hematology, University Medical Center Groningen, the Netherlands., Swinkels DW; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, the Netherlands., Christodoulou J; Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, Australia john.christodoulou@mcri.edu.au.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Australia.; Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Australia., Fleming MD; Dana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.; Department of Pathology, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA USA.

Publikováno v: Haematologica [Haematologica] 2018 Dec; Vol. 103 (12), pp. 2008-2015. Date of Electronic Publication: 2018 Jul 19.