Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant-Reference-Cited by-同舟云学术

Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant

Published:2022-10-29 Issue: Volume: Page:1-9
ISSN:0888-0018
Container-title:Pediatric Hematology and Oncology
language:en
Short-container-title:Pediatric Hematology and Oncology

Author:

Gok Veysel¹^ORCID,Ozcan Alper¹,Ozer Sinem²,Karaman Filiz³,Aykutlu Esra¹,Yilmaz Ebru¹,Karakukcu Musa¹,Bisgin Atil²^ORCID,Unal Ekrem¹⁴⁵^ORCID

Affiliation:

1. Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey

2. Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey

3. Department of Radiology, Division of Pediatric Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey

4. Department of Molecular Biology and Genetics, Gevher Nesibe Genome and Stem Cell Institution, Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey

5. Department of Blood Banking and Transfusion Medicine, Health Science Institution, Erciyes University, Kayseri, Turkey

Publisher

Informa UK Limited

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/08880018.2022.2140235

Reference29 articles.

1. Miyajima H, Hosoi Y. Aceruloplasminemia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. Seattle: University of Washington, August 12, 2003. [updated 2018 Sep 27]:1993–2021.

2. Estimation of the gene frequency of aceruloplasminemia in Japan

3. A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients

4. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

5. CERULOPLASMIN METABOLISM AND FUNCTION