Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Bernhard Fahrner"'
Autor:
Oskar A. Haas, Franz Ratzinger, Astrid Dossenbach‐Glaninger, Milen Minkov, Bernhard Fahrner, Kaan Boztug, Leo Kager, Petra Zeitlhofer
Publikováno v:
Pediatric Blood & Cancer. 63:914-916
We report two children with severe chronic hemolytic anemia, the cause of which was difficult to establish because of transfusion dependency. Reduced erythrocyte pyruvate kinase activity in their asymptomatic parents provided the diagnostic clues for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05118017d84e493752b9cd2ba03891f5
https://doi.org/10.1002/pbc.25878
https://doi.org/10.1002/pbc.25878
Publikováno v:
Kinder- und Jugendmedizin. 14:253-259
ZusammenfassungDie Langerhans-Zell-Histiozytose (LCH) ist eine seltene histiozytäre Erkrankung (Inzidenz: 0,2–2,0/100 000 Kinder unter 15 Jahren) mit einem sehr heterogenen klinischen Verlauf. Spontane Regressionen werden ebenso beobachtet wie chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dfeab1ad6825e42b61df48d9cae1aee5
https://doi.org/10.1055/s-0038-1629224
https://doi.org/10.1055/s-0038-1629224
Autor:
B. Jauk, Milen Minkov, Wolfgang Schwinger, Herwig Lackner, Christian Urban, Georg Ebetsberger, Wolfgang Holter, Volker Strenger, Martin Benesch, J. Sipurzynski, Roman Crazzolara, Leo Kager, Neil Jones, Markus G. Seidel, Bernhard Fahrner, Reinhold Kerbl, B. Wohlmuther
Publikováno v:
Seminars in hematology. 53
Chronic immune thrombocytopenia (cITP) is often associated with an underlying predisposition towards autoimmunity, recognition of which is relevant to guide treatment. International recommendations on diagnostic steps and therapeutic measures of cITP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af80916fc7a5486300d3cb41d3233414
https://pubmed.ncbi.nlm.nih.gov/27312164
https://pubmed.ncbi.nlm.nih.gov/27312164
Autor:
Leo, Kager, Lesley J, Bruce, Petra, Zeitlhofer, Joanna F, Flatt, Tabita M, Maia, M Leticia, Ribeiro, Bernhard, Fahrner, Gerhard, Fritsch, Kaan, Boztug, Oskar A, Haas
Publikováno v:
Pediatric bloodcancer. 64(3)
We describe the second patient with anionic exchanger 1/band 3 null phenotype (band 3 null
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a1130c3351ed2ee108359cf090431d55
https://pubmed.ncbi.nlm.nih.gov/27718309
https://pubmed.ncbi.nlm.nih.gov/27718309
Autor:
Helmut Gadner, Martha Krischmann, Bernhard Fahrner, Nicole Grois, Milen Minkov, Helmut Prosch, Daniela Prayer
Publikováno v:
Pediatric Blood & Cancer. 58:606-610
Background Hypothalamic-pituitary (HP) disease is the most common CNS manifestation of Langerhans cell histiocytosis (LCH) frequently leading to diabetes insipidus (DI) and anterior pituitary hormone deficiencies (APD). On MRI, loss of the normal pos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::211921ad5135d63a4395d5e460ad42fd
https://doi.org/10.1002/pbc.24042
https://doi.org/10.1002/pbc.24042
Autor:
Leo, Kager, Milen, Minkov, Petra, Zeitlhofer, Bernhard, Fahrner, Franz, Ratzinger, Kaan, Boztug, Astrid, Dossenbach-Glaninger, Oskar A, Haas
Publikováno v:
Pediatric bloodcancer. 63(5)
We report two children with severe chronic hemolytic anemia, the cause of which was difficult to establish because of transfusion dependency. Reduced erythrocyte pyruvate kinase activity in their asymptomatic parents provided the diagnostic clues for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e864b25699215f6cdf474b31b261a993
https://pubmed.ncbi.nlm.nih.gov/26836632
https://pubmed.ncbi.nlm.nih.gov/26836632
Autor:
Lesley J. Bruce, Gerhard Fritsch, Bernhard Fahrner, Joanna F. Flatt, Petra Zeitlhofer, Kaan Boztug, M. Letícia Ribeiro, Oskar A. Haas, Tabita M. Maia, Leo Kager
Publikováno v:
Pediatric Blood & Cancer. 64:e26227
We describe the second patient with anionic exchanger 1/band 3 null phenotype (band 3 nullVIENNA ), which was caused by a novel nonsense mutation c.1430C>A (p.Ser477X) in exon 12 of SLC4A1. We also update on the previous band 3 nullCOIMBRA patient, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a64dcc7f518f1d8aa331c7ab8ab2e78
https://doi.org/10.1002/pbc.26227
https://doi.org/10.1002/pbc.26227
Autor:
Bernhard, Fahrner, Helmut, Prosch, Milen, Minkov, Martha, Krischmann, Helmut, Gadner, Daniela, Prayer, Nicole, Grois
Publikováno v:
Pediatric bloodcancer. 58(4)
Hypothalamic-pituitary (HP) disease is the most common CNS manifestation of Langerhans cell histiocytosis (LCH) frequently leading to diabetes insipidus (DI) and anterior pituitary hormone deficiencies (APD). On MRI, loss of the normal posterior pitu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ab786dff1295a50a39c9fa9f9b815df
https://pubmed.ncbi.nlm.nih.gov/22183971
https://pubmed.ncbi.nlm.nih.gov/22183971
Autor:
Nicole Grois, Bernhard Fahrner, Robert J. Arceci, Jan-Inge Henter, Kenneth McClain, Hans Lassmann, Vasanta Nanduri, Helmut Prosch, Daniela Prayer
Publikováno v:
The Journal of pediatrics. 156(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a382c17040a592663197f5a2e8f713
https://pubmed.ncbi.nlm.nih.gov/20434166
https://pubmed.ncbi.nlm.nih.gov/20434166
Autor:
Leo Kager, Petra Zeitlhofer, Joanna F. Flatt, Bernhard Fahrner, Lesley J. Bruce, Gerhard Fritsch, Oskar A. Haas
Publikováno v:
Blood. 126:945-945
The solute carrier 4A1 gene (SLC4A1) encodes theband 3 or bicarbonate anionic exchanger 1 (AE1). It is not only the major glycoprotein of the red blood cell (RBC) membrane but also expressed in acid secreting alpha-intercalated kidney cells. Function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd552355a95c07683bfd1c9c4923eff5
https://doi.org/10.1182/blood.v126.23.945.945
https://doi.org/10.1182/blood.v126.23.945.945