Zobrazeno 1 - 10
of 171
pro vyhledávání: '"W. Eber"'
Autor:
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, Jennifer A. Rothman, Mukta Sharma, Ellis J. Neufeld, Sujit Sheth, Jenny M. Despotovic, Nina Kollmar, Dagmar Pospíšilová, Christine M. Knoll, Kevin Kuo, Yves D. Pastore, Alexis A. Thompson, Peter E. Newburger, Yaddanapudi Ravindranath, Winfred C. Wang, Marcin W. Wlodarski, Heng Wang, Susanne Holzhauer, Vicky R. Breakey, Madeleine Verhovsek, Joachim Kunz, Melissa A. McNaull, Melissa J. Rose, Heather A. Bradeen, Kathryn Addonizio, Anran Li, Hasan Al-Sayegh, Wendy B. London, Rachael F. Grace
Publikováno v:
Haematologica, Vol 104, Iss 2 (2019)
Externí odkaz:
https://doaj.org/article/7c186564490a4bcea73e25b735945c6c
Autor:
Kevin H.M. Kuo, Sujit Sheth, Stefan W. Eber, Vicky R. Breakey, Heng Wang, Satheesh Chonat, Hanny Al-Samkari, D. Holmes Morton, Rachael F. Grace, Eduard J. van Beers, PeterW. Forbes, Robert J. Klaassen, Nina Kollmar, Mukta Sharma
Publikováno v:
Blood Advances. 6:1844-1853
Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic hemolytic anemia. Although recognition of the disease spectrum has recently expanded, data describing its impact on health-related quality of life (HRQoL) are limi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b5212325fff968346668497c62c8010
https://doi.org/10.1182/bloodadvances.2021004675
https://doi.org/10.1182/bloodadvances.2021004675
Autor:
Ellis J. Neufeld, Rachael F. Grace, Satheesh Chonat, Heather A. Bradeen, Vicky R. Breakey, Heng Wang, Stefan W. Eber, Susanne Holzhauer, Bertil Glader, Nina Kollmar, Hassan M. Yaish, Hasan Al-Sayegh, Sujit Sheth, D. Holmes Morton, Jennifer A. Rothman, Wendy B. London, Yaddanapudi Ravindranath, Mukta Sharma
Publikováno v:
Pediatric bloodcancerREFERENCES. 68(9)
Pyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management.An international, multicenter registry enrolled
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557a054d4bbc464cced9948621237000
https://pubmed.ncbi.nlm.nih.gov/34125488
https://pubmed.ncbi.nlm.nih.gov/34125488
Autor:
Oliver Andres, Michaela Nathrath, Joachim B. Kunz, Stefan W. Eber, Paraskevi Klothaki, Stefan Burdach, Rachael F. Grace, Nina Kollmar, Alexander Puzik
Publikováno v:
Monatsschrift Kinderheilkunde.
Der Pyruvatkinase(PK)-Mangel der Erythrozyten wird autosomal-rezessiv vererbt und durch Mutationen im PKLR-Gen verursacht. Das Gen kodiert fur das letzte Enzym der anaeroben Glykolyse der Erythrozyten, die Pyruvatkinase (PK-R [Pyruvatkinase-R-Isoform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb3fe17ffb7039649c2d0e9118cee3ac
https://doi.org/10.1007/s00112-021-01126-8
https://doi.org/10.1007/s00112-021-01126-8
Autor:
Audra N. Boscoe, Wilma Barcellini, Stefan W. Eber, Madeleine Verhovsek, Heng Wang, Ellis J. Neufeld, Sujit Sheth, Kevin H.M. Kuo, Yan Yan, Rachael F. Grace, Satheesh Chonat, Hanny Al-Samkari, Bertil Glader, Mukta Sharma, Eduard J. van Beers, Hassan M. Yaish, Elizabeth Hedgeman
Publikováno v:
European Journal of Haematology
Objectives Pyruvate kinase (PK) deficiency is caused by PKLR gene mutations, leading to defective red blood cell glycolysis and hemolytic anemia. Rates of comorbidities and complications by transfusion history and relative to the general population r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c793e646a944f92a8f4b54d583b95d69
https://mediatum.ub.tum.de/doc/1624702/document.pdf
https://mediatum.ub.tum.de/doc/1624702/document.pdf
Autor:
Rachael F. Grace, Janet L. Kwiatkowski, Wilma Barcellini, Bertil Glader, Nina Kollmar, Susanne Holzhauer, Hasan Al-Sayegh, Vicky R. Breakey, Wendy B. London, Sujit Sheth, Kevin H.M. Kuo, Jennifer A. Rothman, Marcin W. Wlodarski, Jenny M. Despotovic, Melissa J. Rose, Stefan W. Eber, Hassan M. Yaish, Hanny Al-Samkari, Yves D. Pastore, Kathryn Addonizio, Christine M. Knoll, Alexis A. Thompson, Dagmar Pospisilova, Satheesh Chonat, Mukta Sharma, Melissa N. McNaull, Yaddanapudi Ravindranath, Eduard J. van Beers, D. Holmes Morton, Heather A. Bradeen, Joachim B. Kunz, Madeleine Verhovsek, Heng Wang
Publikováno v:
American Journal of Hematology. 95
Background: Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia. The spectrum of disease in PKD is broad, ranging from an incidentally discovered mild anemia to a severe transfusion-depende
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4871d489878bf6ec776b5f1afae0826d
https://doi.org/10.1002/ajh.25926
https://doi.org/10.1002/ajh.25926
Autor:
Julia Eilenberger, Stefan W. Eber, Harald Schulze, Georgi Manukjan, Christian Schambeck, Oliver Andres
Publikováno v:
Hämostaseologie. 39:383-391
Storage pool disease (SPD) covers a group of platelet defects in which α- and/or delta-granules are reduced or cannot be secreted adequately in response to agonists. The detection of delta-granule release defects is hampered by a lack of fast and fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c18cbb51cbba5d895993bb5552054f4c
https://doi.org/10.1055/s-0038-1675574
https://doi.org/10.1055/s-0038-1675574
Publikováno v:
Kinder- und Jugendmedizin. 17:93-104
ZusammenfassungDie Erstbetreuung von Kindern mit neu aufgetretener Anämie erfolgt meist durch den behandelnden Pädiater. Er muss zwischen akuter und chronischer Anämie unterscheiden und die Dringlichkeit der weiteren Abklärung abschätzen. Neben
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c92bcc59a0ac4f4114eca7deaf192f5
https://doi.org/10.1055/s-0038-1629408
https://doi.org/10.1055/s-0038-1629408
Autor:
Melissa A. McNaull, Wendy B. London, Heather A. Bradeen, Joachim B. Kunz, Madeleine Verhovsek, Heng Wang, Stefan W. Eber, Wilma Barcellini, Winfred C. Wang, Susanne Holzhauer, Alexis A. Thompson, Ellis J. Neufeld, D. Holmes Morton, Kevin H.M. Kuo, Melissa J. Rose, Christine M. Knoll, Yaddanapudi Ravindranath, Anran Li, Eduard J. van Beers, Janet L. Kwiatkowski, Mukta Sharma, Dagmar Pospisilova, Vicky R. Breakey, Satheesh Chonat, Yves D. Pastore, Jennifer A. Rothman, Bertil Glader, Rachael F. Grace, Nina Kollmar, Peter E. Newburger, Hasan Al-Sayegh, Sujit Sheth, Hassan M. Yaish, Kathryn Addonizio, Stephanie van Straaten, Marcin W. Wlodarski, Jenny M. Despotovic
Publikováno v:
Haematologica, 104(2), e51. Ferrata Storti Foundation
Pyruvate kinase (PK) deficiency is the most common red cell glycolytic enzyme defect causing hereditary non-spherocytic hemolytic anemia. Current treatments are mainly supportive and include red cell transfusions and splenectomy.[1][1] Regular red ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02a29c0d0fcf11647a4a2c0ebfb90ad
https://doi.org/10.3324/haematol.2018.196295
https://doi.org/10.3324/haematol.2018.196295
Autor:
Magdolna Nagy, Julia Volz, Andreas Greinacher, Leonard Wagner, Sanjeev K. Gotru, Harald Schulze, Johan W. M. Heemskerk, Georgi Manukjan, Johanna P. van Geffen, Julia Eilenberger, Elmina Mammadova-Bach, Stefan W. Eber, Bernhard Nieswandt, Carsten Deppermann, Paquita Nurden, Christian Schambeck, Heike M. Hermanns, Attila Braun, Sanne L. N. Brouns, Ulrich J. Sachs
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Scientific Reports, 9:8333. Nature Publishing Group
Scientific Reports, 9:8333. Nature Publishing Group
Zinc (Zn2+) can modulate platelet and coagulation activation pathways, including fibrin formation. Here, we studied the (patho)physiological consequences of abnormal platelet Zn2+ storage and release. To visualize Zn2+ storage in human and mouse plat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dc4ce1910fb62a082c0b9a4f5987eda
https://doi.org/10.1038/s41598-019-44751-w
https://doi.org/10.1038/s41598-019-44751-w