نتایج جستجو برای: haemophilia a

تعداد نتایج: 13432458  

2011
Mehmet AKIN Deniz Yilmaz KARAPINAR Can BALKAN Yilmaz AY Kaan KAVAKLI

Von Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. The worldwide incidence of VWD is estimated between 1% and 4% of the population without apparent racial or ethnic predilection. In the United States, the incidence of haemophilia A is estimated to be 25 per 100 000 male births. Despite the relatively high frequency of those two bleeding disorders in t...

Journal: :Thrombosis and haemostasis 2008
Paul E Monahan

The study of coagulation factors has been rapidly advanced by studies performed in genetically engineered mouse strains. Investigation of factor IX (FIX) has benefited from excellent gene-deleted mouse models that recapitulate many of the features of human haemophilia B. Moreover, advanced positional cloning techniques and availability of technology to allow not only knock-out mice, but also kn...

Journal: :Journal of clinical pathology 1972
D Meyer E Bidwell M J Larrieu

Cross-reacting factor IX material (CRM) was immunologically detected in the plasma of 38 normal individuals and 21 out of 22 haemophilia B patients using a rabbit antibody to factor IX. The same reacting material was detected in only nine of these patients using a human antibody. These results indicate that the plasma of the majority of haemophilia B patients contains a protein-lacking biologic...

Journal: :Hamostaseologie 2003
B Houissa M L Mliki S Abdelkafi M Bouslama M Zaïer T Mahjoub M Kortas L Ghachem S Yacoub

Cryoprecipitate is the principal type of factor VIII (FVIII) concentrate used for treating haemophilia A in Tunisia. Allergic reactions, viral transmission, and inhibitor formation remain the most serious complications of FVIII therapy. The aims of the study presented here were to evaluate the efficacy of FVIII therapy, to investigate the inhibitor prevalence, and the factors which may affect i...

Journal: :Thrombosis and haemostasis 2016
Massimo Franchini Cristina Santoro Antonio Coppola

http://dx.doi.org/10.1160/TH16-02-0116 Thromb Haemost 2016; 116: 201–203 Dear Sirs, Considering the high quality of replacement therapy available nowadays for haemophiliacs, the most challenging complication of haemophilia is currently the development of inhibitors, which render replacement therapy ineffective, preclude the access of patients to a safe and effective standard of care (particular...

Journal: :British journal of haematology 2017
Nadine G Andersson Günter Auerswald Chris Barnes Manuel Carcao Amy L Dunn Karin Fijnvandraat Marianne Hoffmann Kaan Kavakli Gili Kenet Rainer Kobelt Karin Kurnik Ri Liesner Anne Mäkipernaa Marilyn J Manco-Johnson Maria E Mancuso Angelo C Molinari Beatrice Nolan Rosario Perez Garrido Pia Petrini Helen E Platokouki Amy D Shapiro Runhui Wu Rolf Ljung

The discussion of prophylactic therapy in haemophilia is largely focused on joint outcomes. The impact of prophylactic therapy on intracranial haemorrhage (ICH) is less known. This study aimed to analyse ICH in children with haemophilia, with a focus on different prophylaxis regimens and sequelae of ICH. We conducted a multicentre retrospective and prospective study that included 33 haemophilia...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2005
M Mitchell S Keeney A Goodeve

Haemophilia B is one of the most common inherited bleeding disorders and has a well understood pathophysiology. Our understanding of the molecular genetics of the disease has allowed the development of comprehensive carrier and prenatal diagnosis for this single gene disorder. Continuing technological developments improve our ability to provide genetic analysis in a rapid and cost-effective man...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2013
S von Mackensen I G Campos C Acquadro M Strandberg-Larsen

Currently, haemophilia care aims to provide the best possible quality of life for individuals living with this chronic disease. Many factors are known to influence treatment adherence, including treatment satisfaction. Health-related quality of life (HRQoL) and treatment satisfaction are, therefore, important outcomes in clinical trials and clinical practice. As individuals' perception of their...

Journal: :Nucleic acids research 1994
F Giannelli P M Green S S Sommer D P Lillicrap M Ludwig R Schwaab P H Reitsma M Goossens A Yoshioka G G Brownlee

The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of < 30bp) identified in haemophilia B patients. The 1,142 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in ci...

Journal: :Nucleic acids research 1996
F. Giannelli P. M. Green S. S. Sommer M.-C. Poon M. Ludwig Rainer Schwaab Pieter H. Reitsma M. Goossens A. Yoshioka George G. Brownlee

The sixth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1380 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on factor IX activity, factor IX antigen in circ...

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