PubMed for id: 899109

Year	Number of Results
1994	1
1995	1
1996	1
1997	1
1998	2
1999	1
2000	4
2003	1
2004	2
2010	1
2011	2
2014	1
2015	1
2018	1
2020	1
2022	1
2024	0

1

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.

Morimoto Y, Chonabayashi K, Kawabata H, Okubo C, Yamasaki-Morita M, Nishikawa M, Narita M, Inagaki A, Nakanishi K, Nagao M, Takaori-Kondo A, Yoshida Y. Morimoto Y, et al. Blood Adv. 2022 Feb 22;6(4):1100-1114. doi: 10.1182/bloodadvances.2021005664. Blood Adv. 2022. PMID: 34781359 Free PMC article.

2

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD. Riley LG, et al. Haematologica. 2018 Dec;103(12):2008-2015. doi: 10.3324/haematol.2017.182659. Epub 2018 Jul 19. Haematologica. 2018. PMID: 30026338 Free PMC article.

3

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.

Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N. Nakajima J, et al. J Hum Genet. 2014 Apr;59(4):229-32. doi: 10.1038/jhg.2013.143. Epub 2014 Jan 16. J Hum Genet. 2014. PMID: 24430573

4

Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.

Furuyama K, Fujita H, Nagai T, Yomogida K, Munakata H, Kondo M, Kimura A, Kuramoto A, Hayashi N, Yamamoto M. Furuyama K, et al. Blood. 1997 Jul 15;90(2):822-30. Blood. 1997. PMID: 9226183 Free article.

5

YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality.

Gurtner C, Hug P, Kleiter M, Köhler K, Dietschi E, Jagannathan V, Leeb T. Gurtner C, et al. Genes (Basel). 2020 Mar 14;11(3):313. doi: 10.3390/genes11030313. Genes (Basel). 2020. PMID: 32183361 Free PMC article.

6

Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.

Furuyama K, Sassa S. Furuyama K, et al. J Clin Invest. 2000 Mar;105(6):757-64. doi: 10.1172/JCI6816. J Clin Invest. 2000. PMID: 10727444 Free PMC article.

7

Animal models for X-linked sideroblastic anemia.

Yamamoto M, Nakajima O. Yamamoto M, et al. Int J Hematol. 2000 Aug;72(2):157-64. Int J Hematol. 2000. PMID: 11039663 Review.

8

Bone marrow biopsy findings in childhood anemia: prevalence of transient erythroblastopenia of childhood.

Farhi DC, Luebbers EL, Rosenthal NS. Farhi DC, et al. Arch Pathol Lab Med. 1998 Jul;122(7):638-41. Arch Pathol Lab Med. 1998. PMID: 9674545

9

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

Cazzola M, Malcovati L. Cazzola M, et al. Hematology Am Soc Hematol Educ Program. 2015;2015:19-25. doi: 10.1182/asheducation-2015.1.19. Hematology Am Soc Hematol Educ Program. 2015. PMID: 26637696

10

Lack of efficacy of pyridoxine (vitamin B6) treatment in acquired idiopathic sideroblastic anaemia, including refractory anaemia with ring sideroblasts.

Baumann Kreuziger LM, Wolanskyj AP, Hanson CA, Steensma DP. Baumann Kreuziger LM, et al. Eur J Haematol. 2011 Jun;86(6):512-6. doi: 10.1111/j.1600-0609.2011.01604.x. Epub 2011 Apr 1. Eur J Haematol. 2011. PMID: 21388451

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