3 results match your criteria: "(Edificio Hospital Materno Infantil)[Affiliation]"
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.
Thromb Haemost
January 2016
Francisco Javier Batlle Fonrodona, M. D., Servicio de Hematología y Hemoterapia. INIBIC., Complexo Hospitalario Universitario A Coruña, Edificio Hospital Materno Infantil, Carretera del Pasaje s/n, 15006 - A Coruña, Spain, Tel.: +34 981 178000 Ext. 292113, Fax: +34 981 178392, E-mail:
The diagnosis of von Willebrand disease (VWD) remains difficult in a significant proportion of patients. A Spanish multicentre study investigated a cohort of 556 patients from 330 families who were analysed centrally. VWD was confirmed in 480.
View Article and Find Full Text PDFA novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome.
Thromb Haemost
November 2014
Francisco Javier Batlle Fonrodona, MD, Servicio de Hematología y Hemoterapia, Complexo Hospitalario Universitario A Coruña, (Edificio Hospital Materno Infantil), Carretera del Pasaje s/n, 15006 - A Coruña, Spain, Tel.: +34 981 178000 Ext. 292113, Fax: +34 981 178392, E-mail:
Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.
Haematologica
May 2009
Servicio de Hematología y Hemoterapia, Complexo Hospitalario, Universitario Juan Canalejo (Edificio Hospital Materno Infantil), Carretera del Pasaje s/n, La Coruña, Spain.
Background: Mutation C1149R in the von Willebrand factor (VWF) gene has been thought to cause autosomal dominant severe type 1 von Willebrand disease (VWD).
Design And Methods: Eight patients from three unrelated families with this mutation were included in the present study who had distinct VWF abnormalities, not described in earlier studies.
Results: The patients showed notably low levels of VWF antigen (VWF:Ag), VWF ristocetin cofactor activity (VWF:RCo), VWF collagen binding (VWF:CB), and a reduced ristocetin-induced platelet aggregation (RIPA).