المؤلفون: Jinbo Huang, Meili Ge, Yingqi Shao, Min Wang, Peng Jin, Jiali Huo, Xingxin Li, Jing Zhang, Neng Nie, Yizhou Zheng

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)

مصطلحات موضوعية: ALAS2, X-linked sideroblastic anemia, Hemizygous, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/dd44672fbdf34fa2b9a4b50ed3357966

المؤلفون: Jianying Zhou, Hang Zhang, Yao Qin, Ting Liu

المصدر: Journal of Clinical Medicine, Vol 12, Iss 5, p 1990 (2023)

مصطلحات موضوعية: hereditary spherocytosis, X-linked sideroblastic anemia, next-generation sequencing, complex mutations, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/12/5/1990; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/15fe9cb4190748529d6ab605b04b3a3e

المؤلفون: Huang, Jinbo, Ge, Meili^Aff1, Shao, Yingqi, Wang, Min, Jin, Peng, Huo, Jiali, Li, Xingxin, Zhang, Jing, Nie, Neng, Zheng, Yizhou

المصدر: BMC Medical Genomics. 14(1)

المؤلفون: Shiqiu Xiong, Yang Jia, Shijun Li, Peng Huang, Jie Xiong, Dingan Mao, Qingnan He, Liqun Liu

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: X-linked sideroblastic anemia with ataxia, XLSA/A, sideroblastic anemia, ataxia, ABCB7 gene, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.692459/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/660e050a90084eeaa2434f53caf226e3

المؤلفون: Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop

المصدر: Molecular Medicine, Vol 25, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: X-linked sideroblastic anemia, Porphyria, Erythropoietic, Polymorphism, Single nucleotide, Glycine, succinyl-coenzyme a, Therapeutics. Pharmacology, RM1-950, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s10020-019-0070-9; https://doaj.org/toc/1076-1551; https://doaj.org/toc/1528-3658

URL الوصول: https://doaj.org/article/a7ef3a05609f473eb8a0a531bf25927c

المؤلفون: Tchaikovskii, Vassili^Aff1, Desnick, Robert J.^Aff1, Bishop, David F.^Aff1

المصدر: Molecular Medicine. 25(1)

المؤلفون: Andrea Ricci, Giada Di Betto, Elisa Bergamini, Elena Buzzetti, Elena Corradini, Paolo Ventura

المصدر: Metabolites. 12(9)

مصطلحات موضوعية: erythropoietic protoporphyria, Endocrinology, Diabetes and Metabolism, iron, heme, porphyria, congenital sideroblastic anemias, porphyria cutanea tarda, congenital hereditary porphyria, acute hepatic porphyrias, X-linked sideroblastic anemia, erythropoiesis, Biochemistry, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::965560ad74d4d730fee1ba015ae5d59a
https://pubmed.ncbi.nlm.nih.gov/36144223

المؤلفون: Schipper, Hyman M.^Aff1, Ponka, Prem^Aff1

المساهمون: Yehuda, Shlomo, editor^AffID1, Mostofsky, David I., editor^AffID2

المصدر: Iron Deficiency and Overload : From Basic Biology to Clinical Medicine. :251-276

Degree: MD, PHD FRPC
MD, PHD

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تسجيل الدخول للوصول الكامل.

المؤلفون: Omune(Morimoto), Yuki

المساهمون: 江藤, 浩之, 寺田, 智祐, 小川, 誠司

مصطلحات موضوعية: induced pluripotent stem cells, Azacitidine, X-linked sideroblastic anemia, anemia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=jairo_______::49d7d55ac14dc10cbbc186a49a0ff3b2
http://hdl.handle.net/2433/275099