Disease: Dyserythropoietic anemia- congenital
- <em>Cdan1</em> Is Essential for Primitive Erythropoiesis
- <em>SEC23B</em> missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia
- A Case of Angioid Streaks in Congenital Dyserythropoietic Anaemia Type II
- A case of cholelithiasis that seems like secondary hemochromatosis as a result of congenital dyserythropoietic anemia
- A Case of Congenital Dyserythropoietic Anemia Masked by Hemoglobin H Disease
- A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice
- A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels
- A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger
- A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype
- A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
- Ablation of <em>Tmcc2</em> Gene Impairs Erythropoiesis in Mice
- Adrenal extramedullary hematopoiesis in the setting of anti-Diego antibody and congenital dyserythropoietic anemia
- An <em>EHPB1L1</em> Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates
- An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates
- An IDH1-vitamin C crosstalk drives human erythroid development by inhibiting pro-oxidant mitochondrial metabolism
- Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling
- Benign clinical phenotype of co-inherited congenital dyserythropoietic anaemia type I and heterozygous haemoglobin Lepore
- Canakinumab treatment in a young girl with refractory chronic recurrent multifocal osteomyelitis associated with pyoderma gangrenosum
- Clinical and genetic analysis of a child with Majeed syndrome
- Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation
- Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia
- Comment on: Severe beta-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia-The deceivingly normal mean corpuscular volume and hemoglobin electrophoresis in dominantly inherited beta-thalassemia: Hb Little Venice
- Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II
- Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias
- Congenital dyserythropoietic anaemia type II in a teenager presenting with severe anaemia
- Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report
- Congenital Dyserythropoietic Anemia Type I: A Rare Case Report
- Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR)
- 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 With Myelofibrosis in an Adult Patient: A Report of a Rare Case With a Brief Review
- Congenital dyserythropoietic anemia type II-A rare case report
- Congenital Dyserythropoietic Anemia Type II: A Case Report
- Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population
- Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population
- Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature
- Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia
- Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene
- Deficiency of Lipin2 Results in Enhanced NF-κB Signaling and Osteoclast Formation in RAW-D Murine Macrophages
- Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol
- Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population
- Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
- Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders
- Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia
- ER-to-Golgi transport and SEC23-dependent COPII vesicles regulate T cell alloimmunity
- Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation
- Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency
- Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia
- Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level
- Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations
- Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium
- Hemochromatosis, Iron Overload-Related Diseases, and Pancreatic Cancer Risk in the Surveillance, Epidemiology, and End Results (SEER)-Medicare
- Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia
- Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome
- IL-1 blocking experience in a case with Majeed syndrome diagnosed in adulthood
- Images from the Haematologica Atlas of Hematologic Cytology: congenital dyserythropoietic anemia type II
- Ineffective erythropoiesis and its treatment
- Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin
- Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches
- Living with… Rendu-Osler disease
- LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature
- Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features
- Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature
- Mechanism of ASF1 Inhibition by CDAN1
- Modelling the erythroblastic island niche of dyserythropoietic anaemia type IV patients using induced pluripotent stem cells
- Multiple oral and cerebral relapses of a Granular cell tumor (Abrikossoff Tumor) in a young girl affected by congenital dyserythropoietic anemia type II
- Mutations in the <em>RACGAP1</em> gene cause autosomal recessive congenital dyserythropoietic anemia type III
- Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
- Neonatal diagnosis of congenital dyserythropoietic anemia type II
- New Cases and Mutations in <em>SEC23B</em> Gene Causing Congenital Dyserythropoietic Anemia Type II
- New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
- Non-deletional haemoglobin H (Hb H) disease morphologically masquerading as congenital dyserythropoietic anaemia type II: a diagnostic pitfall
- Novel <em>PKLR</em> missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia
- Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis
- Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation
- Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia
- NOVEL THERAPEUTIC APPROACHES IN THALASSEMIAS, SICKLE CELL DISEASE AND OTHER RED CELL DISORDERS
- Novel therapeutic approaches in thalassemias, sickle cell disease, and other red cell disorders
- One advantageous reflection of iron metabolism in context of normal physiology and pathological phases
- Peripheral blood features of iron overload in post-splenectomy, type I congenital dyserythropoietic anemia
- Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I
- RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease
- Rare congenital Dyserythropoietic anemia of childhood: A case report
- Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities
- Rise of the planet of rare anemias: An update on emerging treatment strategies
- SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II
- SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells
- SEC23B missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia
- Severe anemia caused by dominant mutations in Kruppel-like factor 1 (KLF1)
- Severe beta-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia
- Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues
- Severe β-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia
- The congenital dyserythropoieitic anemias: genetics and pathophysiology
- The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission
- Ultrastructural characteristics of erythroid cells in congenital dyserythropoietic anemia type II, with a focus on peripheral cisternae and double membranes
- Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients
- Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias
- Using the Zebrafish as a Genetic Model to Study Erythropoiesis
- Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia
- VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects
- Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis