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Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure disorder characterized by erythroid hypoplasia. It primarily affects infants...
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The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics
Diamond-Blackfan anemia (DBA) is caused mainly by genetic mutations in large ( RPL ) or small ribosomal subunit genes ( RPS) and presents with...
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Recommendations on hematopoietic stem cell transplantation for patients with Diamond–Blackfan anemia. On behalf of the Pediatric Diseases and Severe Aplastic Anemia Working Parties of the EBMT
Diamond Blackfan anemia (DBA) is a rare congenital syndrome presenting primarily as pure red cell aplasia with constitutional abnormalities and...
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Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond–Blackfan anemia
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative therapy for the hematologic manifestations of Diamond–Blackfan anemia...
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Outcome of colorectal cancer in Diamond–Blackfan syndrome with a ribosomal protein S19 mutation
Diamond–Blackfan anemia is an autosomal dominant syndrome, characterized by anemia and a predisposition for malignancies. Ribosomal proteins are...
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Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
Diamond-Blackfan Anemia (DBA) is a congenital pure red cell aplasia caused by heterozygous variants in ribosomal protein genes. The hematological...
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Defects in Bone and Bone Marrow in Inherited Anemias: the Chicken or the Egg
Purpose of ReviewRecently, there has been an increasing number of studies on the crosstalk between the bone and the bone marrow and how it pertains...
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Integrated proteogenomic analysis for inherited bone marrow failure syndrome
Recent advances in in-depth data-independent acquisition proteomic analysis have enabled comprehensive quantitative analysis of >10,000 proteins....
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Diamond–Blackfan anemia RPL35A: a case report
BackgroundDiamond–Blackfan anemia is a rare congenital red blood cell aplasia characterized by failed erythropoiesis, congenital abnormalities in up...
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Correction: Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Endometriosis in a 22-Year-Old with Premature Ovarian Insufficiency Secondary to Pre-Pubertal Bone Marrow Transplant: a Case Report
Endometriosis is often diagnosed in reproductive aged women with spontaneous ovarian activity. Here we described a case of endometriosis diagnosed in...
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Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature
Congenital dyserythropoietic anemia type II (CDA II) refers to a group of extremely rare heterozygous disorders characterized by ineffective...
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Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes
Inherited bone marrow failure syndromes (IBMFSs) are a group of rare genetic disorders characterized by bone marrow failure with unique phenotypes...
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Anemia is associated with increased risk of non-vertebral osteoporotic fractures in elderly men: the MrOS Sweden cohort
SummaryThis study includes 1005 men from the Gothenburg part of the Osteoporotic Fracture in Men Study (MrOS). Included are 66 men with anemia...
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Comparison of haploidentical–allogeneic hematopoietic stem cell transplantation and intensive immunosuppressive therapy for patients with severe aplastic anemia with an absolute neutrophil count of zero: a retrospective study
A retrospective analysis was conducted based on the clinical data from 60 patients older than 16 years from January 2016 to January 2021. All the...
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A real-world experience of eltrombopag plus rabbit antithymocyte immunoglobulin–based IST in Chinese patients with severe aplastic anemia
Eltrombopag (EPAG), a thrombopoietin receptor agonist, was approved for the treatment of severe aplastic anemia (SAA) combined with immunosuppressive...
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Anemia and PET imaging
AimAnemia is a blood disorder characterized by reduced Hemoglobin concentration and/or red blood cells numbers. Most common causes of anemia are iron...
