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Diamond-Blackfan anemia.
Krijanovski OI, Sieff CA. Krijanovski OI, et al. Hematol Oncol Clin North Am. 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. Hematol Oncol Clin North Am. 1997. PMID: 9443046 Review.
Diamond-Blackfan anemia (DBA) is a rare, congenital, hypoplastic anemia that usually presents in early infancy. ...The disease is characterized by a moderate-to-severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular …
Diamond-Blackfan anemia (DBA) is a rare, congenital, hypoplastic anemia that usually presents in early infancy. …
Emerging Therapeutic Approaches for Diamond Blackfan Anemia.
Aspesi A, Borsotti C, Follenzi A. Aspesi A, et al. Curr Gene Ther. 2018;18(6):327-335. doi: 10.2174/1566523218666181109124538. Curr Gene Ther. 2018. PMID: 30411682 Free PMC article. Review.
Diamond Blackfan Anemia (DBA) is an inherited erythroid aplasia with onset in childhood. ...
Diamond Blackfan Anemia (DBA) is an inherited erythroid aplasia with onset in childhood. ...
Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J, Su Y, Chen L, Lin Y, Ru K. Li J, et al. Int J Lab Hematol. 2023 Oct;45(5):766-773. doi: 10.1111/ijlh.14126. Epub 2023 Jun 28. Int J Lab Hematol. 2023. PMID: 37376976 Review.
INTRODUCTION: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by erythroid aplasia, physical malformation, and cancer predisposition. ...Including 2 patients in this study, 13 patients with RPS10 mutations and 38 …
INTRODUCTION: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by erythroi …
Nucleolar stress in Diamond Blackfan anemia pathophysiology.
Ellis SR. Ellis SR. Biochim Biophys Acta. 2014 Jun;1842(6):765-8. doi: 10.1016/j.bbadis.2013.12.013. Epub 2014 Jan 8. Biochim Biophys Acta. 2014. PMID: 24412987 Free article. Review.
Diamond Blackfan anemia is a red cell hypoplasia that typically presents within the first year of life. Most cases of Diamond Blackfan anemia are caused by ribosome assembly defects linked to haploinsufficiency for structural proteins of …
Diamond Blackfan anemia is a red cell hypoplasia that typically presents within the first year of life. Most cases of …
Deferasirox.
Stumpf JL. Stumpf JL. Am J Health Syst Pharm. 2007 Mar 15;64(6):606-16. doi: 10.2146/ajhp060405. Am J Health Syst Pharm. 2007. PMID: 17353569 Review.
Deferasirox has been studied in >700 adult and pediatric patients who had transfusion-related iron overload and underlying thalassemia, sickle cell anemia, myelodysplastic syndrome, Diamond-Blackfan syndrome, or another rare anemia. ...
Deferasirox has been studied in >700 adult and pediatric patients who had transfusion-related iron overload and underlying thalassemia, s …
Hereditary Predispositions to Myelodysplastic Syndrome.
Bannon SA, DiNardo CD. Bannon SA, et al. Int J Mol Sci. 2016 May 30;17(6):838. doi: 10.3390/ijms17060838. Int J Mol Sci. 2016. PMID: 27248996 Free PMC article. Review.
Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotyp …
Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (D …
The inherited bone marrow failure syndromes.
Chirnomas SD, Kupfer GM. Chirnomas SD, et al. Pediatr Clin North Am. 2013 Dec;60(6):1291-310. doi: 10.1016/j.pcl.2013.09.007. Pediatr Clin North Am. 2013. PMID: 24237972 Free PMC article. Review.
Several themes have emerged within each subsection of IBMFS, including the ribosomopathies, which include ribosome assembly and ribosomal RNA processing. The Fanconi anemia pathway has become interdigitated with the familial breast cancer syndromes. ...
Several themes have emerged within each subsection of IBMFS, including the ribosomopathies, which include ribosome assembly and ribosomal RN …
Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist.
Li J, Bledsoe JR. Li J, et al. Semin Diagn Pathol. 2023 Nov;40(6):429-442. doi: 10.1053/j.semdp.2023.06.006. Epub 2023 Jun 28. Semin Diagn Pathol. 2023. PMID: 37507252 Review.
The rarity of these disorders and the overlap of clinical and pathologic features between primary and secondary causes of bone marrow failure, acquired aplastic anemia, and myelodysplastic syndrome may result in diagnostic uncertainty. With an emphasis on the pathologist's …
The rarity of these disorders and the overlap of clinical and pathologic features between primary and secondary causes of bone marrow failur …
Diamond-blackfan anemia and cyclosporine therapy revisited.
Alessandri AJ, Rogers PC, Wadsworth LD, Davis JH. Alessandri AJ, et al. J Pediatr Hematol Oncol. 2000 Mar-Apr;22(2):176-9. doi: 10.1097/00043426-200003000-00020. J Pediatr Hematol Oncol. 2000. PMID: 10779036 Review.
A girl with Diamond-Blackfan anemia diagnosed in infancy started cyclosporine A (CSA) therapy at 9 years and 8 months of age after experiencing unacceptable side effects while receiving prednisone. ...She is currently maintained on CSA 100 mg twice daily with …
A girl with Diamond-Blackfan anemia diagnosed in infancy started cyclosporine A (CSA) therapy at 9 years and 8 months o …
Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review.
Moisa SM, Spoiala EL, Trandafir LM, Butnariu LI, Miron IC, Ciobanu A, Mocanu A, Ivanov A, Ciongradi CI, Sarbu I, Ciubara A, Rusu CD, Luca AC, Burlacu A. Moisa SM, et al. Medicina (Kaunas). 2023 Feb 14;59(2):362. doi: 10.3390/medicina59020362. Medicina (Kaunas). 2023. PMID: 36837563 Free PMC article. Review.
Diamond-Blackfan anemia is a rare (6-7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mut …
Diamond-Blackfan anemia is a rare (6-7 million live births), inherited condition manifesting as severe anemia …
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