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Items: 1 to 20 of 85

1.
A novel nonsense RPS26 mutation in a patient with Diamond–Blackfan anemia: a case report
Şule Çalışkan Kamış, Metin Çil, Begül Yağcı, Özlem Anlaş
J Med Case Rep. 2024; 18: 562. Published online 2024 Nov 20. doi: 10.1186/s13256-024-04907-3
PMCID:
PMC11580626
ArticlePDF–983K
2.
Transient erythroblastopenia of childhood after COVID-19 infection: a case report
Giulio Rivetti, Fabio Giovanni Abbate, Marialaura Longobardi, Maria Maddalena Marrapodi, Francesca Lanzaro, Martina Di Martino, Fara Vallefuoco, Velia D’Angelo, Maddalena Casale, Immacolata Tartaglione, Silverio Perrotta, Domenico Roberti
Ital J Pediatr. 2024; 50: 131. Published online 2024 Jul 29. doi: 10.1186/s13052-024-01700-2
PMCID:
PMC11288083
ArticlePDF–1.1M
3.
Neuromyelitis Optica spectrum disorder complicated with pure red cell aplasia: a case report
Wanqing Jiang, Jue Wang, Yu Feng, Qian Liu, Mingjun Liu, Huiying Sun, Kun Zhang, Qingyu Ji, Peifei Jia, Xuewen Liu
BMC Neurol. 2024; 24: 241. Published online 2024 Jul 11. doi: 10.1186/s12883-024-03749-2
PMCID:
PMC11238516
ArticlePDF–1.1M
4.
Late‐onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour‐Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff
JIMD Rep. 2024 May; 65(3): 163–170. Published online 2024 Apr 15. doi: 10.1002/jmd2.12422
PMCID:
PMC11078714
ArticlePDF–1.7M
5.
Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia
Yang Liu, Stefan Karlsson
Leukemia. 2024; 38(1): 1–9. Published online 2023 Nov 16. doi: 10.1038/s41375-023-02082-w
Correction in:
Leukemia. 2024; 38(1): 228.
PMCID:
PMC10776401
ArticlePDF–1.3M
6.
The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review
Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, Eftichia Stiakaki
Children (Basel) 2023 Nov; 10(11): 1812. Published online 2023 Nov 15. doi: 10.3390/children10111812
PMCID:
PMC10670567
ArticlePDF–1.3M
7.
Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science
Senthil Velan Bhoopalan, Shruthi Suryaprakash, Akshay Sharma, Marcin W. Wlodarski
Front Oncol. 2023; 13: 1236038. Published online 2023 Sep 11. doi: 10.3389/fonc.2023.1236038
PMCID:
PMC10518466
ArticlePDF–731K
8.
Discrepancies in ICD-9/ICD-10-based codes used to identify three common diseases in cancer patients in real-world settings and their implications for disease classification in breast cancer patients and patients without cancer: a literature review and descriptive study
Nora Tu, Mackenzie Henderson, Meera Sundararajan, Maribel Salas
Front Oncol. 2023; 13: 1016389. Published online 2023 Sep 6. doi: 10.3389/fonc.2023.1016389
PMCID:
PMC10512179
ArticlePDF–531K
9.
A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami
Kristin D. Fauntleroy-Love, Theodore E. Wilson, Nurcicek Padem, Meredith R. Golomb
Child Neurol Open. 2023 Jan-Dec; 10: 2329048X231190784. Published online 2023 Jul 27. doi: 10.1177/2329048X231190784
PMCID:
PMC10388622
ArticlePDF–2.0M
10.
Pure Red Cell Aplasia Encountered in a Tertiary Care Hematology Laboratory: A Series of Nine Distinctive Cases
Mansi Kala, Kunal Das, Avriti Baveja, Manish Raturi, Meghali Dhebane, Sohaib Ahmad, Mansi Mehrotra
J Lab Physicians. 2023 Jun; 15(2): 316–320. Published online 2022 Oct 20. doi: 10.1055/s-0042-1757584
PMCID:
PMC10264118
ArticlePDF–1.0M
11.
Waldenström macroglobulinemia with secondary pure red cell aplasia in a patient with metastatic castrate resistant prostate cancer receiving an immune checkpoint inhibitor: a case report
Vaibhav Kumar, Nathan D. Montgomery, Hendrik W. van Deventer, Young E. Whang
J Med Case Rep. 2023; 17: 220. Published online 2023 May 28. doi: 10.1186/s13256-023-03948-4
PMCID:
PMC10225080
ArticlePDF–1.2M
12.
BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology
Guillemette Fouquet, Julien Rossignol, Laure Ricard, Flavia Guillem, Lucile Couronné, Vahid Asnafi, Manon Vavasseur, Mélanie Parisot, Nicolas Garcelon, Frédéric Rieux-Laucat, Arsène Mekinian, Olivier Hermine
Front Med (Lausanne) 2022; 9: 997161. Published online 2022 Nov 16. doi: 10.3389/fmed.2022.997161
PMCID:
PMC9709112
ArticlePDF–1.6M
13.
L’érythroblastopénie et la myélofibrose primitive: association très rare (à propos d’un cas)
Nora EL Maachi, Mahtat El Mehdi, Imane Ait Filali, Selim Jennane, Hicham El Maaroufi, Kamal Doghmi
Pan Afr Med J. 2022; 42: 201. French. Publication en ligne 2022 juil. 13. DOI : 10.11604/pamj.2022.42.201.32754
PMCID:
PMC9547022
ArticlePDF–727K
14.
A Case Report on Transient Erythroblastopenia of Childhood in a Female Pediatric Patient
Umberto M Donato, Jr., Andrew Galligan
Cureus. 2022 Jun; 14(6): e26451. Published online 2022 Jun 30. doi: 10.7759/cureus.26451
PMCID:
PMC9338761
ArticlePDF–89K
15.
GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
Birgit van Dooijeweert, Sima Kheradmand Kia, Niklas Dahl, Odile Fenneteau, Roos Leguit, Edward Nieuwenhuis, Wouter van Solinge, Richard van Wijk, Lydie Da Costa, Marije Bartels
Genes (Basel) 2022 Mar; 13(3): 447. Published online 2022 Feb 28. doi: 10.3390/genes13030447
PMCID:
PMC8949872
ArticlePDF–1.7M
16.
Diamond-Blackfan anemia
Lydie M. Da Costa, Isabelle Marie, Thierry M. Leblanc
Hematology Am Soc Hematol Educ Program. 2021 Dec 10; 2021(1): 353-360. Published online 2021 Dec 10. doi: 10.1182/hematology.2021000314
PMCID:
PMC8791146
ArticlePDF–217K
17.
Pure red cell aplasia accompanied by COVID-19 successfully treated using cyclosporine
Susumu Yamazaki, Erika Naito, Ryu Sekiya, Sanehiro Yogi, Kenichiro Komiyama, Yoshitaka Miyakawa, Makoto Nagata
J Infect Chemother. 2022 Feb; 28(2): 304–307. Published online 2021 Oct 25. doi: 10.1016/j.jiac.2021.10.018
PMCID:
PMC8542443
ArticlePDF–1.8M
18.
儿童异基因造血干细胞移植后人类细小病毒B19感染的血液学表现
张 陆阳, 刘 芳, 陈 霞, 张 小燕, 任 媛媛, 张 然然, 杨 文钰, 郭 晔
Zhonghua Xue Ye Xue Za Zhi. 2021 Aug; 42(8): 654–659. Chinese. doi: 10.3760/cma.j.issn.0253-2727.2021.08.007
PMCID:
PMC8501274
ArticlePDF–831K
19.
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1
Ifeyinwa Emmanuela Obiorah, Bhavisha A. Patel, Emma M. Groarke, Weixin Wang, Megan Trick, Amanda K. Ombrello, Marcela A. Ferrada, Zhijie Wu, Fernanda Gutierrez-Rodrigues, Jennifer Lotter, Lorena Wilson, Patrycja Hoffmann, Daniela Ospina Cardona, Nisha Patel, Alina Dulau-Florea, Daniel L. Kastner, Peter C. Grayson, David B. Beck, Neal S. Young, Katherine R. Calvo
Blood Adv. 2021 Aug 24; 5(16): 3203–3215. Published online 2021 Aug 24. doi: 10.1182/bloodadvances.2021004976
PMCID:
PMC8405186
ArticlePDF–3.2M
20.
An uncommon presentation of COVID-19: concomitant acute pulmonary embolism, spontaneous tension pneumothorax, pneumomediastinum and subcutaneous emphysema (a case report)
Zakariae Belarbi, Falmata Laouan Brem, Siham Nasri, Skiker Imane, El Ouafi Noha
Pan Afr Med J. 2021; 39: 26. Published online 2021 May 10. doi: 10.11604/pamj.2021.39.26.29178
PMCID:
PMC8348285
ArticlePDF–633K

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