Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood

Autor: M. L. Uria-Oficialdegui, S. Navarro, L. Murillo-Sanjuan, C. Rodriguez-Vigil, M. I. Benitez-Carbante, C. Blazquez-Goñi, J. A. Salinas, C. Diaz-de-Heredia

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

BackgroundDyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, and predisposition to cancer. The main objective of this study is to describe the natural history of D

Externí odkaz: https://doaj.org/article/eeed63e4b51a41bebf82eaff5aca1b09

Survival and toxicity outcomes of hematopoietic stem cell transplantation for pediatric patients with Fanconi anemia: a unified multicentric national study from the Spanish Working Group for Bone Marrow Transplantation in Children

Autor: A Sastre Urgelles, M. L. Uria Oficialdegui, A Rodríguez Villa, I. Badell Serra, B. Argiles Aparicio, Marta González-Vicent, C Beléndez-Bieler, L. Murillo-Sanjuán, Cristina Diaz-de-Heredia, M López-Duarte, J Sevilla Navarro

Publikováno v: BONE MARROW TRANSPLANTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Hematopoietic stem cell transplantation (HSCT) is currently the only curative option for hematological manifestations in patients with Fanconi anemia (FA). We report the outcome of 34 patients with FA inside a collaborative multicenter national study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35d8aeeeb6b84e39d8579895417b9622
https://pubmed.ncbi.nlm.nih.gov/33303901