Works matching DE "CONGENITAL dyserythropoietic anemia"

Results: 21

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

By:

Talarico, V.;
Giancotti, L.;
Mazza, G. A.;
Galea, E.;
Arcuri, P. P.;
Raiola, G.;
Galati, M. C.;
Tucci, L.;
Miniero, R.

Publication type:

Case Study

Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload.

Published in:

Pediatric Transplantation, 2012, v. 16, n. 3, p. E69, doi. 10.1111/j.1399-3046.2010.01414.x

By:

Buchbinder, David;
Nugent, Diane;
Vu, Dan;
Soni, Amit;
Stites, Jill;
Hsieh, Loan;
Puthenveetil, Geetha

Publication type:

Article

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.

Published in:

Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00621

By:

Russo, Roberta;
Marra, Roberta;
Andolfo, Immacolata;
De Rosa, Gianluca;
Rosato, Barbara Eleni;
Manna, Francesco;
Gambale, Antonella;
Raia, Maddalena;
Unal, Sule;
Barella, Susanna;
Iolascon, Achille

Publication type:

Article

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

By:

Carden, Marcus A.;
Barman, Ashish;
Massey, Gita

Publication type:

Article

Homozygosity mapping reveals founder SEC23B- Y462C mutations in Indian congenital dyserythropoietic anemia type II.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 195, doi. 10.1111/cge.12527

By:

Singleton, B.;
Bansal, D.;
Varma, N.;
Das, R.;
Naseem, S.;
Saikia, U.N.;
Malhotra, P.;
Varma, S.;
Marwaha, R.K.;
King, M.‐J.;
Ahmed, M.

Publication type:

Article

A life-threatening episode of treatment-resistant haemolysis in a pregnant patient with dyserythropoietic anaemia (CDA) type I.

Published in:

Transfusion Medicine, 2012, v. 22, n. 2, p. 145, doi. 10.1111/j.1365-3148.2011.01096.x

By:

Bank, I.;
Ermens, A. A. M.;
Van Der Linden, J. M.;
Brand, A.

Publication type:

Article

Acute liver failure in a pediatric patient with congenital dyserythropoietic anemia type I treated with deferasirox.

Published in:

2015

By:

Ling, Galina;
Pinsk, Vered;
Golan-Tripto, Inbal;
Ling, Eduard

Publication type:

Case Study

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

By:

Viprakasit, Vip;
Tyan, Paul;
Rodmai, Sarayuth;
Taher, Ali T.

Publication type:

Article

Absence of a Red Blood Cell Phenotype in Mice with Hematopoietic Deficiency of SEC23B.

Published in:

Molecular & Cellular Biology, 2014, v. 34, n. 19, p. 3721, doi. 10.1128/MCB.00287-14

By:

Khoriaty, Rami;
Vasievich, Matthew P.;
Jones, Morgan;
Everett, Lesley;
Chase, Jennifer;
Jiayi Tao;
Siemieniak, David;
Bin Zhang;
Maillard, Ivan;
Ginsburg, David

Publication type:

Article

Poster Presentation Abstracts.

Published in:: Erciyes Medical Journal / Erciyes Tip Dergisi, 2016, v. 38, n. 2, p. S7
Publication type:: Article

Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.

Published in:

2017

By:

Kedar, Prabhakar;
Parmar, Vaishali;
Devendra, Rati;
Gupta, Vinod;
Warang, Prashant;
Madkaikar, Manisha

Publication type:

Case Study

Congenital dyserythropoietic anemia in China: a case report from two families and a review.

Published in:

Annals of Hematology, 2014, v. 93, n. 5, p. 773, doi. 10.1007/s00277-013-1933-8

By:

Ru, Yongxin;
Liu, Gang;
Bai, Jie;
Dong, Shuxu;
Nie, Neng;
Zhang, Huamei;
Zhao, Shixuan;
Zheng, Yizhou;
Zhu, Xiaofan;
Nie, Guangjun;
Zhang, Fengkui;
Eyden, Brian

Publication type:

Article

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

By:

Babbs, Christian;
Roy, Noémi B. A.

Publication type:

Article

Congenital dyserythropoietic anaemia type I diagnosed in a young adult with a history of splenectomy in childhood for presumed haemolytic anaemia.

Published in:

British Journal of Haematology, 2018, v. 182, n. 1, p. 10, doi. 10.1111/bjh.15217

By:

Chonat, Satheesh;
McLemore, Morgan L.;
Bunting, Silvia T.;
Nortman, Shannon;
Zhang, Kejian;
Kalfa, Theodosia A.

Publication type:

Article

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

Published in:

British Journal of Haematology, 2016, v. 175, n. 4, p. 696, doi. 10.1111/bjh.14271

By:

Bianchi, Paola;
Schwarz, Klaus;
Högel, Josef;
Fermo, Elisa;
Vercellati, Cristina;
Grosse, Regine;
Wijk, Richard;
Zwieten, Rob;
Barcellini, Wilma;
Zanella, Alberto;
Heimpel, Hermann

Publication type:

Article

New variant of unclassified congenital dyserythropoietic anaemia: the concept of the erythroid regulator?

Published in:

British Journal of Haematology, 2012, v. 157, n. 1, p. 148, doi. 10.1111/j.1365-2141.2011.08932.x

By:

Gay, Julie;
Fournier, Martine;
Pierre-Eugène, Cécile;
Fontenay, Michaela;
Charpentier, Agnès;
Mayeux, Patrick;
Pissard, Serge;
Costa, Lydie Da;
Beaumont, Carole;
Rose, Christian

Publication type:

Article

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Published in:

European Journal of Haematology, 2018, v. 101, n. 3, p. 368, doi. 10.1111/ejh.13112

By:

Moreno‐Carralero, María‐Isabel;
Horta‐Herrera, Saul;
Morado‐Arias, Marta;
Ricard‐Andrés, María‐Pilar;
Lemes‐Castellano, Angelina;
Abio‐Calvete, Mariola;
Cedena‐Romero, María‐Teresa;
González‐Fernández, Fernando‐Ataulfo;
Llorente‐González, Laura;
Periago‐Peralta, Adela‐María;
de‐la‐Iglesia‐Íñigo, Silvia;
Méndez, Manuel;
Morán‐Jiménez, María‐José

Publication type:

Article

Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.

Published in:

European Journal of Haematology, 2017, v. 99, n. 4, p. 366, doi. 10.1111/ejh.12931

By:

Resnitzky, Peretz;
Shaft, Dina;
Shalev, Hanna;
Kapelushnik, Joseph;
Dgany, Orly;
Krasnov, Tanya;
Tamary, Hannah

Publication type:

Article

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.

Published in:

European Journal of Haematology, 2017, v. 98, n. 1, p. 13, doi. 10.1111/ejh.12778

By:

Shalev, Hanna;
Al‐Athamen, Kaid;
Levi, Itai;
Levitas, Aviva;
Tamary, Hannah

Publication type:

Article

High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I.

Published in:

European Journal of Haematology, 2013, v. 90, n. 1, p. 31, doi. 10.1111/ejh.12027

By:

Shalev, Hanna;
Perez‐Avraham, Galit;
Kapelushnik, Joseph;
Levi, Itai;
Rabinovich, Anat;
Swinkels, Dorine W.;
Brasse‐Lagnel, Carole;
Tamary, Hannah

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

By:

Kumari, Ranju;
Kaźmierczak, Piotr

Publication type:

Article