BertilGladerMD

PubMed

• Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
  Al-Samkari, H., Shehata, N., Lang-Robertson, K., Bianchi, P., Glenthøj, A., Sheth, S., Neufeld, E., Rees, D., Chonat, S., Kuo, K., Rothman, J., Barcellini, W., van Bee...> ;The Lancet. Haematology. 2024 Mar 1
• 1 citations
  The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.
  Rachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, Bertil Glader, Andreas Glenthøj, Hitoshi Kanno, Kevin H M Kuo, Carl Lander, D Mark Layton, Dagmar Pospíŝ...> ;BMJ Open. 2023 Mar 23
• Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.
  Yael Gernez, Mansi Narula, Alma-Martina Cepika, Juanita Valdes Camacho, Elisabeth G Hoyte, Kirsten Mouradian, Bertil Glader, Deepika Singh, Bindu Sathi, Latha Rao, Ana...> ;Frontiers in Immunology. 2023 Jan 1
• 12 citations
  Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.
  Leif S Ludwig, Caleb A Lareau, Erik L Bao, Nan Liu, Taiju Utsugisawa, Alex M Tseng, Samuel A Myers, Jeffrey M Verboon, Jacob C Ulirsch, Wendy Luo, Christoph Muus, Clau...> ;Blood. 2022 Apr 21
• 3 citations
  Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD.
  Jonathan D Schwartz, Wilma Barcellini, Rachel F Grace, Paola Bianchi, Alberto Zanella, José Luis López Lorenzo, Julián Sevilla, Ami J Shah, Bertil Glader, Eileen Nicol...> ;American Journal of Hematology. 2022 Mar 1
• 8 citations
  SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
  Matthew M. Heeney, Simon Berhe, Dean R. Campagna, Joseph H. Oved, Peter Kurre, Peter J. Shaw, Juliana Teo, Mayada Abu Shanap, Hoda Hassab, Bertil Glader, Sanjay Shah, ...> ;Human Mutation. 2021 Aug 5
• 7 citations
  The active component of ginseng, ginsenoside Rb1, improves erythropoiesis in models of Diamond–Blackfan anemia by targeting Nemo-like kinase
  Mark C. Wilkes, Kevin Jung, Britney E. Lee, Mallika Saxena, Ryan S. Sathianathen, Jacqueline D Mercado, Cristina A. Perez, Johan Flygare, Anupama Narla, Bertil Glader,...> ;The Journal of Biological Chemistry. 2021 Sep 1
• 9 citations
  Pyruvate kinase deficiency in children.
  Satheesh Chonat, Stefan W. Eber, Susanne Holzhauer, Nina Kollmar, D. Holmes Morton, Bertil Glader, Ellis J. Neufeld, Hassan M. Yaish, Jennifer A. Rothman, Mukta Sharma...> ;Pediatric Blood & Cancer. 2021 Jun 14
• 16 citations
  Comorbidities and complications in adults with pyruvate kinase deficiency.
  Audra N. Boscoe, Yan Yan, Elizabeth Hedgeman, Eduard J. van Beers, Hanny Al-Samkari, Wilma Barcellini, Stefan W. Eber, Bertil Glader, Hassan M. Yaish, Satheesh Chonat,...> ;European Journal of Haematology. 2021 Jan 24
• 12 citations
  L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond...
  Adrianna Vlachos, Evangelia Atsidaftos, Mohammad Lutfi Lababidi, Ellen Muir, Zora R. Rogers, Waseem Alhushki, Jonathan Bernstein, Bertil Glader, Barbara Gruner, Helge ...> ;Pediatric Blood & Cancer. 2020 Dec 1
• 3 citations
  The variable manifestations of disease in pyruvate kinase deficiency and their management.
  Hanny Al-Samkari, Eduard J Van Beers, Kevin H M Kuo, Wilma Barcellini, Paola Bianchi, Andreas Glenthøj, María Del Mar Mañú Pereira, Richard Van Wijk, Bertil Glader, Ra...> ;Haematologica. 2020 Sep 1
• 9 citations
  Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase.
  Mark C. Wilkes, Kavitha Siva, Jianing Chen, G. Varetti, Minyoung Youn, Hee-Don Chae, Fredrik Ek, Roger Olsson, Thomas Lundbäck, Daniel P. Dever, Toshinobu Nishimura, A...> ;Nature Communications. 2020 Jul 3
• 9 citations
  Characterization of the severe phenotype of pyruvate kinase deficiency.
  Hanny Al-Samkari, Eduard J. van Beers, D. Holmes Morton, Wilma Barcellini, Stefan W. Eber, Bertil Glader, Hassan M. Yaish, Satheesh Chonat, Kevin H.M. Kuo, Nina Kollma...> ;American Journal of Hematology. 2020 Jul 3
• 15 citations
  The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.
  Hanny Al-Samkari, Kathryn Addonizio, Bertil Glader, D. Holmes Morton, Satheesh Chonat, Alexis A. Thompson, Kevin H.M. Kuo, Yaddanapudi Ravindranath, Heng Wang, Jennife...> ;British Journal of Haematology. 2021 Mar 1
• The variable manifestations of disease in pyruvate kinase deficiency and their management.
  Al-Samkari, H., van Beers, E. J., Kuo, K. H., Barcellini, W., Bianchi, P., Glenthøj, A. B., Mañú-Pereira, M., van Wijk, R., Glader, B., Grace, R. F.> ;Haematologica. 2020 Mar 14
• 35 citations
  Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency
  Paola Bianchi, Elisa Fermo, Kimberly Lezon-Geyda, Eduard J. van Beers, Holmes Morton, Wilma Barcellini, Bertil Glader, Satheesh Chonat, Yaddanapudi Ravindranath, Peter...> ;American Journal of Hematology. 2020 Mar 6
• 37 citations
  Immunosuppressive therapy for pediatric aplastic anemia: A North American Pediatric Aplastic Anemia Consortium study
  , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Haematologica. 2019 Oct 1
• 13 citations
  MMP9 inhibition increases erythropoiesis in RPS14-deficient del(5q) MDS models through suppression of TGF-β pathways.
  Minyoung Youn, Haigen Huang, Cheng Chen, Sharon Kam, Mark C. Wilkes, Hee-Don Chae, Kunju Sridhar, Peter L. Greenberg, Bertil Glader, Anupama Narla, Shuo Lin, Kathleen ...> ;Blood Advances. 2019 Sep 24
• 84 citations
  Safety and efficacy of mitapivat in pyruvate kinase deficiency
  Rachael F. Grace, Christian Rose, D. Mark Layton, Frédéric Galactéros, Wilma Barcellini, D. Holmes Morton, Eduard J. van Beers, Hassan M. Yaish, Yaddanapudi Ravindrana...> ;The New England Journal of Medicine. 2019 Sep 4
• 9 citations
  The Genetic Landscape of Diamond-Blackfan Anemia.
  Jacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, Michael H Guo, Daniel Yuan, Leif S Ludwig, Robert E Handsaker, Nour J Abdulhay, Claudia Fiorini, Giulio Genoves...> ;American Journal of Human Genetics. 2019 Feb 7
• 32 citations
  Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study
  Eduard J. van Beers, Stephanie van Straaten, D. Holmes Morton, Wilma Barcellini, Stefan W. Eber, Bertil Glader, Hassan M. Yaish, Satheesh Chonat, Janet L. Kwiatkowski,...> ;Haematologica. 2019 Feb 1
• 44 citations
  Addressing the diagnostic gaps in pyruvate kinase deficiency : Consensus recommendations on the diagnosis of pyruvate kinase deficiency
  Paola Bianchi, Elisa Fermo, Bertil Glader, Hitoshi Kanno, Archana M. Agarwal, Wilma Barcellini, Stefan W. Eber, James D. Hoyer, David J. Kuter, Tabita M. Maia, Maria d...> ;American Journal of Hematology. 2019 Jan 1
• 60 citations
  The Genetic Landscape of Diamond-Blackfan Anemia.
  Jacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, Michael H Guo, Daniel Yuan, Leif S Ludwig, Robert E Handsaker, Nour J Abdulhay, Claudia Fiorini, Giulio Genoves...> ;American Journal of Human Genetics. 2018 Dec 6
• 10 citations
  Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation.
  Sharon A. Singh, Susmita N. Sarangi, Abena Appiah-Kubi, Peihong Hsu, W. Byron Smith, Patrick G. Gallagher, Bertil Glader, David H.K. Chui> ;Pediatric Blood & Cancer. 2018 Sep 1
• 32 citations
  Red Blood Cell Enzyme Disorders.
  Rachael F. Grace, Bertil Glader> ;Pediatric Clinics of North America. 2018 Jun 1
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Abstracts/Posters

• Pyruvate Kinase (PK) Protein and Enzyme Levels in the Diagnosis and Clinical Phenotype of PK Deficiency
  Bertil Glader, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/9/2019
• Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency
  Bertil Glader, 61st Annual American Society of Hematology Meeting, 61st Annual American Society of Hematology Meeting - Orlando, FL, 12/7/2019
• Pharmacological Inhibition of Nemo-like Kinase Rescues mTOR-Mediated Translation and Primes Progenitors for Leucine-Stimulated Erythroid Expansion in Pre-Clinical Mode...
  Bertil Glader, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/8/2019
• An Ongoing Global, Longitudinal, Observational Study of Patients with Pyruvate Kinase Deficiency: The PEAK Registry
  Bertil Glader, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/8/2019
• Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency
  Bertil Glader, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/7/2019
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Other

• Disseminated intravascular coagulation in infants and children 
  Glader B, Wong W
  http://www.uptodate.com/contents/disseminated-intravascular-coagulation-in-infants-and-children
  UpToDate, Wolters Kluwer Health - 2013-02-28
• Genetics and pathophysiology of glucose-6-phosphate dehydrogenase deficiency 
  Glader B
  http://www.uptodate.com/contents/genetics-and-pathophysiology-of-glucose-6-phosphate-dehydrogenase-d
  UpToDate, Wolters Kluwer Health - 2012-01-17
• Related disorders of the hexose monophosphate shunt and glutathione metabolism 
  Glader B
  http://www.uptodate.com/contents/related-disorders-of-the-hexose-monophosphate-shunt-and-glutathione
  UpToDate, Wolters Kluwer Health - 2012-05-21
• Clinical manifestations of glucose-6-phosphate dehydrogenase deficiency 
  Glader B
  http://www.uptodate.com/contents/clinical-manifestations-of-glucose-6-phosphate-dehydrogenase-defici
  UpToDate, Wolters Kluwer Health - 2013-03-05
• Diagnosis and treatment of glucose-6-phosphate dehydrogenase deficiency 
  Glader B
  http://www.uptodate.com/contents/diagnosis-and-treatment-of-glucose-6-phosphate-dehydrogenase-defici
  UpToDate, Wolters Kluwer Health - 2012-08-09
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