Results 111 to 120 of about 107,712 (298)
Effectiveness of hydroxyurea (hydroxycarbamide) in a national sickle cell disease programme in Ghana
A real‐world hydroxyurea (hydroxycarbamide; HU) implementation programme in Ghana demonstrated the population‐level effectiveness of HU in improving haematological parameters and patient‐reported outcomes among both paediatric and adult individuals with sickle cell disease.
Duah Dwomoh+10 more
wiley +1 more source
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far+4 more
wiley +1 more source
STUDY OF THALASSEMIA MINOR IN THREE GENERATIONS OF AN ITALIAN FAMILY [PDF]
Robert W. Heinle, MARGARET RUTH READ
openalex +1 more source
Diagnosis and treatment of occipital brain lesions in children
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini+4 more
wiley +1 more source
Asymtomatic essential thrombocythemia in a child: a rare case report
Essential thrombocythemia is a rare myeloproliferative disorder in pediatrics. This myeloproliferative disorder is charactherized by thrombocytosis and hyperplasia of megakaryocytes in the bone marrow. Other cell lines are not involved.JAK2V617Fmutations
Majid Vafaie+4 more
doaj
Protein synthesis in a cell free human reticulocyte system: ribosome function in thalassemia. [PDF]
A Bank, P A Marks
openalex +1 more source
Under normoxic conditions, the SUMOylated fraction of TFAP2A cannot interact with the Ku70/Ku80 complex, nor it can bind to chromatin. The unSUMOylated fraction pre‐occupies the chromatin of a subset of hypoxia‐induced genes together with the Ku70/Ku80 complex for basal euchromatin formation. Under hypoxic conditions, the SUMOylation equilibrium shifts
Amalia Kanoura+8 more
wiley +1 more source
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source