Hematopoietic stem cell transplantation in children with genetic defects.
(41/103)
Seventeen children (mean age: 7.2 years) with genetic defects involving hematopoietic cell production or function, underwent 19 allogeneic stem cell transplantations from HLA identical siblings. Twelve children were suffering from thalassemia major; 2 from Diamond Blackfan anemia; 2 from Fanconi anemia and 1 from congenital dyserythropoietic anemia. The disease free survival was 77% with a mean follow up of 36 months. The major complications were graft versus host disease, veno-occlusive disease, CMV infection and hemorrhage. One case each of thalassaemia major and Fanconi anemia rejected the graft after 1 year and 11 months, respectively. Both patients were successfully transplanted second time from the same donor with some modification in the conditioning regimen and stem cell source. (+info)
Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.
(42/103)
(+info)
Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.
(43/103)
(+info)
Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.
(44/103)
(+info)
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
(45/103)
(+info)
Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome.
(46/103)
(+info)
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
(47/103)
(+info)
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
(48/103)
(+info)