Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene-Reference-Cited by-同舟云学术

Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene

Published:2018-07-01 Issue:13 Volume:57 Page:1905-1910
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Yamamura Ayako¹,Kikukawa Yoshitaka¹²,Tokunaga Kenji¹,Miyagawa Eiko¹,Endo Shinya¹,Miyake Hirosada¹,Hata Hiroyuki³,Mitsuya Hiroaki¹,Yoshida Kunihiro⁴,Matsuoka Masao¹

Affiliation:

1. Departments of Hematology, Rheumatology, and Infectious Diseases, Kumamoto University Graduate School of Medicine, Japan

2. Division of Medical Oncology, Saiseikai Kumamoto Hospital, Japan

3. Division of Informative Clinical Sciences, Faculty of Medical Sciences, Kumamoto University, Japan

4. Division of Neurogenetics, Department of Brain Disease Research, Shinshu University School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/57/13/57_9496-17/_pdf

Reference20 articles.

1. 1. Suzuki Y, Yoshida K, Aburakawa Y, et al. Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. Intern Med 52: 1527-1530, 2013.

2. 2. Miyajima H. Aceruloplasminemia. Neuropathology 35: 83-90, 2015.

3. 3. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249, 2010.

4. 4. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 11: 863-874, 2001.

5. 5. Matsushima A, Yoshida T, Yoshida K, et al. Superficial siderosis associated with aceruloplasminemia. Case report. J Neurol Sci 339: 231-234, 2014.

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