Статті в журналах з теми "Congenital Sideroblastic Anemia"
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Rodriguez-Sevilla, Juan Jose, Xavier Calvo, and Leonor Arenillas. "Causes and Pathophysiology of Acquired Sideroblastic Anemia." Genes 13, no. 9 (August 30, 2022): 1562. http://dx.doi.org/10.3390/genes13091562.
Повний текст джерелаBakshi, NasirA, and Yasmeen Abulkhair. "Transfusion dependent congenital sideroblastic anemia." Journal of Applied Hematology 4, no. 4 (2013): 160. http://dx.doi.org/10.4103/1658-5127.127906.
Повний текст джерелаCaliskan, Umran, Huseyin Tokgoz, and Hasan Yuksekkaya. "A NOVEL Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis." Blood 114, no. 22 (November 20, 2009): 5105. http://dx.doi.org/10.1182/blood.v114.22.5105.5105.
Повний текст джерелаAbu-Zeinah, Ghaith, Maria T. DeSancho, Mustafa Al-Kawaaz, and Julia Geyer. "Delayed diagnosis of congenital sideroblastic anemia." Seminars in Hematology 55, no. 4 (October 2018): 177–78. http://dx.doi.org/10.1053/j.seminhematol.2017.09.001.
Повний текст джерелаHanina, Sophie, Barbara J. Bain, Barnaby Clark, and D. Mark Layton. "Congenital sideroblastic anemia in a female." American Journal of Hematology 93, no. 9 (August 7, 2018): 1181–82. http://dx.doi.org/10.1002/ajh.25196.
Повний текст джерелаGupta, SanjeevKumar, Seema Rao, Rakhee Kar, Seema Tyagi, and HaraPrasad Pati. "Congenital sideroblastic anemia: A report of two cases." Indian Journal of Pathology and Microbiology 52, no. 3 (2009): 424. http://dx.doi.org/10.4103/0377-4929.55015.
Повний текст джерелаFujiwara, Tohru, and Hideo Harigae. "Pathophysiology and genetic mutations in congenital sideroblastic anemia." Pediatrics International 55, no. 6 (December 2013): 675–79. http://dx.doi.org/10.1111/ped.12217.
Повний текст джерелаKim, Min Hee, Sanjay Shah, Roberta H. Adams, Sylvia Bottomley, and Niketa C. Shah. "Reduced Toxicity Allogeneic Transplant for Congenital Sideroblastic Anemia." Biology of Blood and Marrow Transplantation 22, no. 3 (March 2016): S252. http://dx.doi.org/10.1016/j.bbmt.2015.11.677.
Повний текст джерелаVan Dijck, Ruben, Alice M. Goncalves Silva, and Anita W. Rijneveld. "Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia." New England Journal of Medicine 388, no. 15 (April 13, 2023): 1435–36. http://dx.doi.org/10.1056/nejmc2216213.
Повний текст джерелаKreuziger, Lisa M. Baumann, Alexandra Wolanskyj, and David P. Steensma. "Lack of Efficacy of Pyridoxine (Vitamin B6) Treatment In Acquired Idiopathic Sideroblastic Anemia, Including Refractory Anemia with Ring Sideroblasts." Blood 116, no. 21 (November 19, 2010): 2919. http://dx.doi.org/10.1182/blood.v116.21.2919.2919.
Повний текст джерелаDucamp, Sarah, and Mark D. Fleming. "The molecular genetics of sideroblastic anemia." Blood 133, no. 1 (January 3, 2019): 59–69. http://dx.doi.org/10.1182/blood-2018-08-815951.
Повний текст джерелаLichtenstein, Daniel A., Andrew W. Crispin, Anoop K. Sendamarai, Dean R. Campagna, Klaus Schmitz-Abe, Cristovao M. Sousa, Martin D. Kafina, et al. "A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia." Blood 128, no. 15 (October 13, 2016): 1913–17. http://dx.doi.org/10.1182/blood-2016-05-719062.
Повний текст джерелаJfri, Abdulhadi, Therese El-Helou, Kevin A. Watters, Annie Bélisle, Ivan V. Litvinov, and Elena Netchiporouk. "Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features." SAGE Open Medical Case Reports 7 (January 2019): 2050313X1987671. http://dx.doi.org/10.1177/2050313x19876710.
Повний текст джерелаFernández-Murray, J. Pedro, Sergey V. Prykhozhij, J. Noelia Dufay, Shelby L. Steele, Daniel Gaston, Gheyath K. Nasrallah, Andrew J. Coombs, et al. "Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia." PLOS Genetics 12, no. 1 (January 28, 2016): e1005783. http://dx.doi.org/10.1371/journal.pgen.1005783.
Повний текст джерелаIshida, Hiroyuki, Toshihiko Imamura, Akira Morimoto, Tohru Fujiwara, and Hideo Harigae. "Five-aminolevulinic acid: New approach for congenital sideroblastic anemia." Pediatrics International 60, no. 5 (May 2018): 496–97. http://dx.doi.org/10.1111/ped.13558.
Повний текст джерелаLong, Zhangbiao, Hongmin Li, Yali Du, and Bing Han. "Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology." Gene 668 (August 2018): 182–89. http://dx.doi.org/10.1016/j.gene.2018.05.074.
Повний текст джерелаFujiwara, Tohru, and Hideo Harigae. "Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia." Free Radical Biology and Medicine 133 (March 2019): 179–85. http://dx.doi.org/10.1016/j.freeradbiomed.2018.08.008.
Повний текст джерелаChakraborty, Pranesh K., Klaus Schmitz-Abe, Erin K. Kennedy, Hapsatou Mamady, Turaya Naas, Danielle Durie, Dean R. Campagna, et al. "Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)." Blood 124, no. 18 (October 30, 2014): 2867–71. http://dx.doi.org/10.1182/blood-2014-08-591370.
Повний текст джерелаKrasolnikova, M. V. "Chelation therapy in children." Medical Council 1, no. 1 (December 30, 2016): 123–27. http://dx.doi.org/10.21518/2079-701x-2016-1-123-127.
Повний текст джерелаBerman, Jason N., Pedro Fernandez-Murray, Gheyath Nasrallah, Noelia Dufay, Conrad V. Fernandez, Ameer Jarrar, Andrew J. Coombs, and Christopher McMaster. "Glycine Supplementation – A Novel Therapeutic Strategy for Congenital Sideroblastic Anemia." Blood 120, no. 21 (November 16, 2012): 2087. http://dx.doi.org/10.1182/blood.v120.21.2087.2087.
Повний текст джерелаMedeiros, B. C., J. F. Kolhouse, P. J. Cagnoni, J. Ryder, Y. Nieto, R. Rabinovitch, E. J. Shpall, S. I. Bearman, R. B. Jones, and P. A. McSweeney. "Nonmyeloablative allogeneic hematopoietic stem cell transplantation for congenital sideroblastic anemia." Bone Marrow Transplantation 31, no. 11 (May 28, 2003): 1053–55. http://dx.doi.org/10.1038/sj.bmt.1704038.
Повний текст джерелаKucerova, Jana, Monika Horvathova, Petra Belohlavkova, Jaroslav Cermak, and Vladimir Divoky. "New Mutation in ALAS2 as the Cause of X-Linked Sideroblastic Anemia Responsive to Pyridoxine: Comparison of ALAS2-Defective and DMT1-Defective BFU-E Growth." Blood 114, no. 22 (November 20, 2009): 4051. http://dx.doi.org/10.1182/blood.v114.22.4051.4051.
Повний текст джерелаRose, Christian, Claire Oudin, Martine Fournier, Alexandre Bouquet, Luca Inchiappa, Bernard Grandchamp, Laurent Gouya, and Caroline Kannengiesser. "A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia." Blood 122, no. 21 (November 15, 2013): 2199. http://dx.doi.org/10.1182/blood.v122.21.2199.2199.
Повний текст джерелаCaudill, J. S., H. Imran, J. C. Porcher, and D. P. Steensma. "Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH." Haematologica 93, no. 10 (October 1, 2008): 1582–84. http://dx.doi.org/10.3324/haematol.12597.
Повний текст джерелаAyas, M., A. Al-Jefri, M. M. Mustafa, M. Al-Mahr, L. Shalaby, and H. Solh. "Bone marrow transplantation (BMT) in patients with congenital sideroblastic anemia (CSA)." Journal of Pediatric Hematology/Oncology 22, no. 4 (July 2000): 385. http://dx.doi.org/10.1097/00043426-200007000-00087.
Повний текст джерелаKim, Min Hee, Sanjay Shah, Sylvia S. Bottomley, and Niketa C. Shah. "Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia." Clinical Case Reports 6, no. 9 (August 1, 2018): 1841–44. http://dx.doi.org/10.1002/ccr3.1667.
Повний текст джерелаFuruyama, Kazumichi, and Kiriko Kaneko. "Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia." International Journal of Hematology 107, no. 1 (November 14, 2017): 44–54. http://dx.doi.org/10.1007/s12185-017-2368-0.
Повний текст джерелаPatil, Ashish S., Nalla Anuraag Reddy, and Harsha Prasada Lashkari. "Congenital sideroblastic anemia in a child with biliary atresia: An association?" Pediatric Hematology Oncology Journal 8, no. 3 (September 2023): 179–81. http://dx.doi.org/10.1016/j.phoj.2023.07.005.
Повний текст джерелаOhba, Rie, Kazumichi Furuyama, Kenichi Yoshida, Tohru Fujiwara, Noriko Fukuhara, Yasushi Onishi, Atsushi Manabe, et al. "Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS)." Annals of Hematology 92, no. 1 (September 16, 2012): 1–9. http://dx.doi.org/10.1007/s00277-012-1564-5.
Повний текст джерелаImataki, Osamu, Shumpei Uchida, Makiko Uemura, and Norimitsu Kadowaki. "Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia." Pediatric Hematology and Oncology 36, no. 1 (January 2, 2019): 46–51. http://dx.doi.org/10.1080/08880018.2019.1578844.
Повний текст джерелаSchmitz-Abe, Klaus, Szymon J. Ciesielski, Paul J. Schmidt, Dean R. Campagna, Fedik Rahimov, Brenda A. Schilke, Marloes Cuijpers, et al. "Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9." Blood 126, no. 25 (December 17, 2015): 2734–38. http://dx.doi.org/10.1182/blood-2015-09-659854.
Повний текст джерелаZhang, Yingchi, Jingliao Zhang, Wenbin An, Yang Wan, Jie Gao, Lihong Shi, Tao Cheng, and Xiaofan Zhu. "Mutation of a GATA1 Binding Site in ALAS2 Intron 1 Arrests Murine Erythroid Development In Vivo." Blood 128, no. 22 (December 2, 2016): 2425. http://dx.doi.org/10.1182/blood.v128.22.2425.2425.
Повний текст джерелаSaito, Kei, Tohru Fujiwara, Shunsuke Hatta, Chie Suzuki, Noriko Fukuhara, Yasushi Onishi, Yukio Nakamura, and Hideo Harigae. "Generation and Molecular Characterization of Human Ring Sideroblasts." Blood 132, Supplement 1 (November 29, 2018): 3613. http://dx.doi.org/10.1182/blood-2018-99-111066.
Повний текст джерелаCrispin, Andrew, Chaoshe Guo, Caiyong Chen, Dean R. Campagna, Paul J. Schmidt, Daniel Lichtenstein, Chang Cao, et al. "Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia." Journal of Clinical Investigation 130, no. 10 (August 31, 2020): 5245–56. http://dx.doi.org/10.1172/jci135479.
Повний текст джерелаPuy, Hervé, Karim Zoubida, Lyoumi Said, Lydie M. Da Costa, and Gouya Laurent. "Heme-Related Blood Disorders." Blood 122, no. 21 (November 15, 2013): SCI—18—SCI—18. http://dx.doi.org/10.1182/blood.v122.21.sci-18.sci-18.
Повний текст джерелаUminski, Kelsey, Donald S. Houston, Jessica Hartley, Geoffrey Cuvelier, and Sara J. Israels. "Clinical Characterization of a Novel Mutation in SLC25A38 Resulting in Congenital Sideroblastic Anemia in a Canadian First Nations Population." Blood 132, Supplement 1 (November 29, 2018): 1035. http://dx.doi.org/10.1182/blood-2018-99-110343.
Повний текст джерелаSimpson, Skyler J., Ming Y. Lim, Tracy I. George, and Anton Rets. "36‐year‐old male with X‐linked congenital sideroblastic anemia presenting as chronic microcytic anemia with iron overload." International Journal of Laboratory Hematology 44, no. 1 (November 15, 2021): 69–71. http://dx.doi.org/10.1111/ijlh.13761.
Повний текст джерелаHumbert, J., P. Wacker, F. Gumy-Pause, J. Schmid, and H. Ozsahin. "A NEW CONGENITAL SIDEROBLASTIC MICROCYTIC HYPOCHROMIC ANEMIA WITH TRANSIENT HYPOTONIA AND FACIAL DYSMORPHISM. 105." Pediatric Research 41, no. 5 (May 1997): 765. http://dx.doi.org/10.1203/00006450-199705000-00124.
Повний текст джерелаGuernsey, Duane L., Haiyan Jiang, Dean R. Campagna, Susan C. Evans, Meghan Ferguson, Mark D. Kellogg, Mathieu Lachance, et al. "Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia." Nature Genetics 41, no. 6 (May 3, 2009): 651–53. http://dx.doi.org/10.1038/ng.359.
Повний текст джерелаGorodetsky, C., CF Morel, and I. Tein. "P.133 Expanding the phenotype of TRNT1 mutations to include Leigh syndrome." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (June 2018): S51. http://dx.doi.org/10.1017/cjn.2018.235.
Повний текст джерелаInokura, Kyoko, Tohru Fujiwara, Yoko Okitsu, Noriko Fukuhara, Yasushi Onishi, Kenichi Ishizawa, Kazuya Shimoda, and Hideo Harigae. "Impact of TET2 Deficiency on Iron Metabolism in Erythroblasts: A Potential Link to Ring Sideroblast Formation." Blood 124, no. 21 (December 6, 2014): 750. http://dx.doi.org/10.1182/blood.v124.21.750.750.
Повний текст джерелаSchmelkin, Leah Ann, Matthew T. Howard, David P. Steensma, Mark D. Fleming, Vilmarie Rodriguez, Shakila Khan, Naseema Gangat, Alexandra Wolanskyj, and Mrinal M. Patnaik. "Clinico-Pathological Features and Outcomes in Patients with Congenital Sideroblastic Anemias." Blood 126, no. 23 (December 3, 2015): 3355. http://dx.doi.org/10.1182/blood.v126.23.3355.3355.
Повний текст джерелаHatta, Shunsuke, Tohru Fujiwara, Takako Yamamoto, Mayumi Kamata, Yoshiko Tamai, Yukio Nakamura, Shin Kawamata, and Hideo Harigae. "Generation of Induced Pluripotent Stem Cell-Derived Erythroblasts from a Patient with X-Linked Sideroblastic Anemia." Blood 128, no. 22 (December 2, 2016): 76. http://dx.doi.org/10.1182/blood.v128.22.76.76.
Повний текст джерелаGagne, Katelyn E., Roxanne Ghazvinian, Daniel Yuan, Rebecca L. Zon, Kelsie Storm, Magdalena Mazur-Popinska, Laura Andolina, et al. "Pearson Marrow Pancreas Syndrome In a Cohort Of Diamond Blackfan Anemia Patients." Blood 122, no. 21 (November 15, 2013): 1226. http://dx.doi.org/10.1182/blood.v122.21.1226.1226.
Повний текст джерелаDaher, Raêd, Abdellah Mansouri, Alain Martelli, Sophie Bayart, Hana Manceau, Isabelle Callebaut, Boualem Moulouel, et al. "GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia." Molecular Genetics and Metabolism 128, no. 3 (November 2019): 342–51. http://dx.doi.org/10.1016/j.ymgme.2018.12.012.
Повний текст джерелаFalcon, Corey P., and Thomas H. Howard. "An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure." Blood 129, no. 19 (May 11, 2017): 2710. http://dx.doi.org/10.1182/blood-2017-02-766881.
Повний текст джерелаWiseman, Daniel H., Alison May, Stephen Jolles, Philip Connor, Colin Powell, Matthew M. Heeney, Patricia J. Giardina, et al. "A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)." Blood 122, no. 1 (July 4, 2013): 112–23. http://dx.doi.org/10.1182/blood-2012-08-439083.
Повний текст джерелаShamsian, Bibi Shahin, Mohammad Reza Jafari, Hassan Abolghasemi, Peyman Eshghi, Mohammad Ali Ehsani, Elham Shahgholi, Maryam Kazemi Aghdam, Atbin Latifi, and Mahnaz Jamee. "Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience." Experimental and Clinical Transplantation 21, no. 1 (January 2023): 70–75. http://dx.doi.org/10.6002/ect.2022.0081.
Повний текст джерелаFujiwara, Tohru, Chie Suzuki, Tetsuro Ochi, Koya Ono, Kei Saito, Noriko Fukuhara, Yasushi Onishi, et al. "Characterization of Congenital Sideroblastic Anemia Model Due to ABCB7 Defects: How Do Defects in Iron-Sulfur Cluster Metabolism Lead to Ring Sideroblast Formation?" Blood 134, Supplement_1 (November 13, 2019): 2232. http://dx.doi.org/10.1182/blood-2019-123918.
Повний текст джерелаFujiwara, Tohru, Ryoyu Niikuni, Koji Okamoto, Yoko Okitsu, Noriko Fukuhara, Yasushi Onishi, Kenichi Ishizawa, et al. "Exploring the Potential Usefulness of 5-Aminolevulinic Acid for X-Linked Sideroblastic Anemia." Blood 124, no. 21 (December 6, 2014): 215. http://dx.doi.org/10.1182/blood.v124.21.215.215.
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