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36th Hemophilia Symposium: Hamburg 2005

Inge Scharrer ; Wolfgang Schramm (eds.)

Resumen/Descripción – provisto por la editorial

No disponible.

Palabras clave – provistas por la editorial

Medicine & Public Health;

Institución detectada Año de publicación Navegá Descargá Solicitá
No detectada 2007 SpringerLink


Tipo de recurso:


ISBN impreso


ISBN electrónico


Editor responsable

Springer Nature

País de edición

Reino Unido

Fecha de publicación

Tabla de contenidos

Thrombin Generation in a Hemophilic Newborn

P. Fritsch; D. Zach; G. Cvirn; K. Baier; M. Köstenberger; B. Leschnik; W. Muntean

Palabras clave: Thrombin Generation; Tissue Factor Pathway Inhibitor; FVIII Activity; FVIII Level; Neonatal Plasma.

Pp. 203-209

Rapid and Sensitive Detection of Heterozygous Deletions of one or more Exons in Hemophilia A Females by Multiplex PCR and DHPLC Technique

A. Pavlova; J. Schröder; D. Delev; C. R. Müller; E. Seifried; J. Oldenburg

In conclusion MP/DHPLC technique can reliable identify hemophilia A female carriers, harboring FVIII gene copy number aberrations and it appears to be a powerful tool in genetic concealing of hemophilia families.

Palabras clave: Human Growth Hormone; Index Patient; Large Deletion; Female Relative; Heterozygous Deletion.

Pp. 213-216

Molecular Genetic Analysis in Patients with Inherited Factor V Deficiency

A. Pavlova; D. Delev; E. Seifried; J. Oldenburg

Identifying the molecular basis of mutations underlying this rare coagulation disorder will aid to obtain more insight into the mechanisms involved in the variable clinical phenotype of patients with FV deficiency. The computer mutation modeling could help to predict the possible alterations of FV protein structure and causality of mutations.

Palabras clave: Missense Mutation; Molecular Genetic Analysis; Protein Data Bank Entry; Sense Mutation; Ribbon Diagram.

Pp. 217-219

Expression Analysis of C1-Inhibitor Mutants Confirms Causality of Missense Mutations for Hereditary Angioedema

T. Förster; C. R. Müller; J. Oldenburg

Recombinant expression of mutated C1INH protein is a useful tool to characterize the role of individual amino acid residues for C1INH activity and hereditary angioedema.

Palabras clave: Recombinant Expression; Autosomal Dominant Disease; Hereditary Angioedema; Mock Transfected Cell; Classical Complement Pathway.

Pp. 220-223

Expression of the γ-Glutamyl Carboxylase (GGCX) Containing the Arg485Pro Mutation Found in two Unrelated VKCFD1 Patients

S. Rost; A. Fregin; V. Mutucumarana; D. Stafford; C. R. Müller; J. Oldenburg

Palabras clave: Insect Cell; Mutation L394R; Sodium Hydrogen Carbonate; Coagulation Factor Deficiency; Radioactive Sodium.

Pp. 224-228

Concentration of Soluble Endothelial Protein C Receptor (EPCR) in Plasma in Relation to Age, Sex, BMI and Hemostasis Parameters

G. Siegert; P. Goez; H. Kostka; S. Gehrisch; E. Kuhlisch; S. M. Schellong

Palabras clave: Factor Viii Activity; Factor Versus Leiden Mutation; Prothrombin Mutation; sEPCR Level; Thrombophilic Risk Factor.

Pp. 229-234

Thrombin Generation is Age-Dependent in Children as well as in Adults

H. Haidl; C. Cimenti; B. Leschnik; D. Zach; W. Muntean

Palabras clave: Tissue Factor; Thrombin Generation; Tissue Factor Pathway Inhibitor; Endogenous Thrombin Potential; Minor Elective Surgery.

Pp. 235-239

Effects of PFA-100 in Preoperative Screening for von Willebrand Disease in 310 Patients

B. Roschitz; C. Weitzer; M. Lindinger; A. Wirnsberger; S. Gindl; M. Köstenberger; W. Muntean

Pp. 240-242

Control of Aspirin Effect in Chronic Cardiovascular Patients Using two Whole Blood Platelet Function Assays: PFA-100 and Multiple Electrode Aggregometry

K. -W. von Pape; M. Dzijan-Horn; J. Bohner; M. Spannagl; H. Weisser; A. Calatzis

Palabras clave: Platelet Function; Bleeding Time; Aspirin Resistance; Aggregation Unit; Thrombin Receptor Activate Peptide.

Pp. 243-251

Difficulties in the Interpretation of the Term »Patient-Related« in the Scope of the Introduction of a Remuneration of Additional Payments According to the OPS

K.H. Beck; P. Dirschedl; M. Mohrmann; B. Waibel

Pp. 255-256