Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Autor: Sarmiento Doncel S; Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia.; Life Sciences and Health Research Group, Graduates School, CES University, Medellin 050021, Colombia.; Doctoral School, Catholic University of Valencia San Vicente Mártir (UCV), 46002 Valencia, Spain., Peláez RG; Life Sciences and Health Research Group, Graduates School, CES University, Medellin 050021, Colombia., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France., Corrales-Medina FF; Division of Pediatric Hematology-Oncology, Department of Pediatrics, University of Miami-Miller School of Medicine, Miami, FL 33136, USA.; University of Miami-Hemophilia Treatment Center, Miami, FL 33136, USA., Díaz Mosquera GA; Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia., Bonanad S; Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain., Cortes JM; Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia., Cazalla M; Instituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain., Gallego N; Instituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France., Querol-Giner F; Physiotherapy in Motion Multispeciality Research Group (PTinMOTION), Department of Physiotherapy, University of Valencia, 46010 Valencia, Spain., Tenorio J; Instituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France.; BITGENETIC LAB, Qube Technology Park, Tres Cantos, 28460 Madrid, Spain., López Guerrero JA; Doctoral School, Catholic University of Valencia San Vicente Mártir (UCV), 46002 Valencia, Spain.; Department of Pathology, Medical School, Catholic University of Valencia, San Vicente Martir, 46010 Valencia, Spain.; Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, 46009 Valencia, Spain.

Publikováno v: Life (Basel, Switzerland) [Life (Basel)] 2024 Aug 21; Vol. 14 (8). Date of Electronic Publication: 2024 Aug 21.

Impact of pharmacokinetics to reduce bleeding in a cohort of patients with severe hemophilia A in a personalized comprehensive management program.

Autor: Sarmiento Doncel S; Integral Solutions Research, Bogotà., Diaz Mosquera GA; Integral Solutions SD, Bogotà., Cortes JM; Integral Solutions SD, Bogotà., Ramirez Plazas N; Hospital Universitario Hernando Moncaleano Perdomo, Neiva., Meza FJ; Hospital San Jorge, Pereira, Colombia., Agudelo Rico C; Integral Solutions Research, Bogotà.

Publikováno v: Hematology reports [Hematol Rep] 2021 Nov 26; Vol. 13 (4), pp. 8904. Date of Electronic Publication: 2021 Nov 26 (Print Publication: 2021).

Adult People with Hemophilia A Have Low Annualized Bleeding Rate, However the Arthropathy Remains a Burden: A Retrospective Cohort Study.

Autor: Pacheco Zavala, Eréndira, Vargas Oliva, Carlos, Santibañez Bedolla, Karla Edith, Murillo Ortíz, Blanca Olivia, Martínez Villegas, Octavio, Amador Medina, Lauro Fabián

Publikováno v: Indian Journal of Hematology & Blood Transfusion; Jul2024, Vol. 40 Issue 3, p487-493, 7p

Gentherapeutische Konzepte in der Behandlung der Hämophilie

Autor: Wolfgang Miesbach

In den letzten zehn Jahren hat sich die Gentherapie als eine bahnbrechende neue Behandlungsoption entwickelt, insbesondere durch die Zulassung von Produkten für die Hämophilie A und B. Diese Therapieform verspricht eine weitgehende Unabhängigkeit