Type‐3 von Willebrand disease in India—Clinical spectrum and molecular profile
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DOI: 10.1111/hae.13542
Abstract: Type 3 von Willebrand disease (VWD) is the rare and most severe form of VWD which results from a near‐complete deficiency of the von Willebrand factor (VWF). This study evaluates in detail the molecular pathology… read more here.
Keywords: type; type von; von willebrand; willebrand disease ... See more keywords
Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease
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DOI: 10.1111/hae.13841
Abstract: Type 3 von Willebrand disease (VWD), a severe autosomal recessive hereditary bleeding disorder, is described by the virtual absence of von Willebrand factor (VWF). In consanguineous populations, for example Pakistan, the disease is reported with… read more here.
Keywords: von; type von; von willebrand; willebrand disease ... See more keywords
Inhibitor development in patients with type 3 Von Willebrand disease, a comprehensive study on 99 Iranian patients
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DOI: 10.1111/hae.14266
Abstract: Dear Editor, Type 3 von Willebrand disease (VWD) is the rarest (1 in 1 million) and the most severe VWD, characterized by undetectable, and low, plasma levels of von Willebrand factor (VWF) and factor (F)… read more here.
Keywords: patients type; inhibitor; type von; von willebrand ... See more keywords
Emicizumab enhances thrombus formation in vitro under high shear flow conditions in whole blood from patients with type 1 and type 3 von Willebrand disease
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DOI: 10.1111/hae.14581
Abstract: Type 1 and type 3 von Willebrand disease (VWD) are caused by partial and complete, quantitative deficiency of von Willebrand factor (VWF), respectively, and factor (F)VIII/VWF complex concentrates are used for haemostatic treatment. Emicizumab, mimics… read more here.
Keywords: willebrand disease; type type; von; von willebrand ... See more keywords
Bleeding score in Type 1 von Willebrand disease patients using the ISTH‐BAT questionnaire
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DOI: 10.1111/ijlh.12761
Abstract: Bleeding assessment tools have evolved in the last decade to standardize the assessment of the severity of bleeding symptom in a consistent way. In 2010, the International Society on Thrombosis and Hemostasis‐Bleeding Assessment Tool (ISTH‐BAT)… read more here.
Keywords: bleeding score; score type; bat; type von ... See more keywords
Bleeding score in type 1 von Willebrand disease patients using the condensed MCMDM‐1 vWD validated questionnaire
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.12850
Abstract: Assessment of the severity of bleeding symptom has led to the evolution of bleeding assessment tools which are now validated. read more here.
Keywords: bleeding score; disease patients; score type; type von ... See more keywords
Laboratory characterization of obligate carriers of type 3 von Willebrand disease with a potential role for Platelet Function Analyzer (PFA‐200)
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.13787
Abstract: Type 3 von Willebrand disease (VWD) is a rare autosomal recessive disorder characterized by undetectable von Willebrand Antigen (VWF:Ag). Carriers of type 3 VWD carry one null allele and have von Willebrand factor (VWF) at… read more here.
Keywords: willebrand; willebrand disease; von willebrand; role platelet ... See more keywords
Bleeding symptoms in patients diagnosed as type 3 von Willebrand disease: Results from 3WINTERS‐IPS, an international and collaborative cross‐sectional study
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DOI: 10.1111/jth.14886
Abstract: Type 3 von Willebrand's disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. Because of its rarity, the bleeding phenotype of type 3 VWD is poorly described, as compared to… read more here.
Keywords: willebrand; type von; von willebrand; willebrand disease ... See more keywords
Von Willebrand factor propeptide and pathophysiological mechanisms in European and Iranian patients with type 3 von Willebrand disease enrolled in the 3WINTERS‐IPS study
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DOI: 10.1111/jth.15658
Abstract: Type 3 von Willebrand disease (VWD) is a severe bleeding disorder caused by the virtually complete absence of von Willebrand factor (VWF). Pathophysiological mechanisms of VWD like defective synthesis, secretion, and clearance of VWF have… read more here.
Keywords: willebrand; willebrand factor; willebrand disease; von willebrand ... See more keywords
The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease
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DOI: 10.1182/bloodadvances.2022007805
Abstract: Key Points The aptamer rondoraptivon pegol improved VWF/FVIII levels, multimer patterns, and thrombocytopenia in type 2B von Willebrand disease. Once weekly subcutaneous injections of rondoraptivon pegol may in the future be used for prophylaxis or… read more here.
Keywords: aptamer rondoraptivon; pegol; vwf fviii; von willebrand ... See more keywords
Glycogen Storage Disease Type I (Von Gierke disease): Report of Two Cases with Severe Dyslipidemia.
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DOI: 10.36660/abc.20190037
Abstract: São denominadas glicogenoses as afecções decorrentes do erro do metabolismo hereditário, com consequente anormalidade na concentração e/ou na estrutura do glicogênio em qualquer tecido do organismo. Atualmente, existem 14 tipos de doenças do armazenamento de… read more here.
Keywords: glycogen storage; type von; gierke disease; von gierke ... See more keywords