Works matching DE "CONGENITAL dyserythropoietic anemia"
Results: 21
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Congenital dyserythropoietic anemia in China: a case report from two families and a review.
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- Annals of Hematology, 2014, v. 93, n. 5, p. 773, doi. 10.1007/s00277-013-1933-8
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- Publication type:
- Article
Poster Presentation Abstracts.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2016, v. 38, n. 2, p. S7
- Publication type:
- Article
Multiple oral and cerebral relapses of a Granular cell tumor (Abrikossoff Tumor) in a young girl affected by congenital dyserythropoietic anemia type II.
- Published in:
- 2022
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- Publication type:
- Case Study
The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 3, p. 436, doi. 10.1111/bjh.15817
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- Publication type:
- Article
Congenital dyserythropoietic anaemia type I diagnosed in a young adult with a history of splenectomy in childhood for presumed haemolytic anaemia.
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- British Journal of Haematology, 2018, v. 182, n. 1, p. 10, doi. 10.1111/bjh.15217
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- Publication type:
- Article
Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.
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- British Journal of Haematology, 2016, v. 175, n. 4, p. 696, doi. 10.1111/bjh.14271
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- Publication type:
- Article
New variant of unclassified congenital dyserythropoietic anaemia: the concept of the erythroid regulator?
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- British Journal of Haematology, 2012, v. 157, n. 1, p. 148, doi. 10.1111/j.1365-2141.2011.08932.x
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- Publication type:
- Article
Absence of a Red Blood Cell Phenotype in Mice with Hematopoietic Deficiency of SEC23B.
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- Molecular & Cellular Biology, 2014, v. 34, n. 19, p. 3721, doi. 10.1128/MCB.00287-14
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- Publication type:
- Article
Homozygosity mapping reveals founder SEC23B- Y462C mutations in Indian congenital dyserythropoietic anemia type II.
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- Clinical Genetics, 2015, v. 88, n. 2, p. 195, doi. 10.1111/cge.12527
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- Publication type:
- Article
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.
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- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00621
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- Publication type:
- Article
Clinical and genetic features of congenital dyserythropoietic anemia (CDA).
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- European Journal of Haematology, 2018, v. 101, n. 3, p. 368, doi. 10.1111/ejh.13112
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- Publication type:
- Article
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.
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- European Journal of Haematology, 2017, v. 99, n. 4, p. 366, doi. 10.1111/ejh.12931
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- Publication type:
- Article
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.
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- European Journal of Haematology, 2017, v. 98, n. 1, p. 13, doi. 10.1111/ejh.12778
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- Publication type:
- Article
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I.
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- European Journal of Haematology, 2013, v. 90, n. 1, p. 31, doi. 10.1111/ejh.12027
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- Publication type:
- Article
Identification and key management of nontransfusion- dependent thalassaemia patients: not a rare but potentially under-recognised condition.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0131-7
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- Publication type:
- Article
Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload.
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- Pediatric Transplantation, 2012, v. 16, n. 3, p. E69, doi. 10.1111/j.1399-3046.2010.01414.x
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- Publication type:
- Article
Modeling congenital dyserythropoietic anemia in genetically modified mice.
- Published in:
- Acta Haematologica Polonica, 2022, v. 53, n. 1, p. 26, doi. 10.5603/AHP.a2022.0003
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- Publication type:
- Article
A life-threatening episode of treatment-resistant haemolysis in a pregnant patient with dyserythropoietic anaemia (CDA) type I.
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- Transfusion Medicine, 2012, v. 22, n. 2, p. 145, doi. 10.1111/j.1365-3148.2011.01096.x
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- Publication type:
- Article
Acute liver failure in a pediatric patient with congenital dyserythropoietic anemia type I treated with deferasirox.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Pulmonary Alveolar Proteinosis in Association with Congenital Dyserythropoietic Anemia: A Case Report.
- Published in:
- Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/624740
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- Publication type:
- Article