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diphosphoglyceratemutase deficiency 相关文献:
Metabolic dysregulation and emerging therapeutical targets for hepatocellular carcinoma.
Du D, Liu C, Qin M, Zhang X, Xi T, Yuan S, Hao H, Xiong J.
Acta Pharm Sin B. 2022 Feb;12(2):558-580. doi: 10.1016/j.apsb.2021.09.019. Epub 2021 Sep 25.
PMID:35256934
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
van Dijk MJ, van Oirschot BA, Stam-Slob MC, Waanders E, van der Zwaag B, van Beers EJ, Jans JJM, van der Linden PW, Torregrosa Diaz JM, Gardie B, Girodon F, Schots R, Thielen N, van Wijk R.
Br J Haematol. 2023 Jan;200(2):249-255. doi: 10.1111/bjh.18485. Epub 2022 Sep 30.
PMID:36177683
The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes.
Rosa R, Prehu MO, Beuzard Y, Rosa J.
J Clin Invest. 1978 Nov;62(5):907-15. doi: 10.1172/JCI109218.
PMID:152321
Bisphosphoglycerate Mutase Deficiency Protects against Cerebral Malaria and Severe Malaria-Induced Anemia.
Xu G, van Bruggen R, Gualtieri CO, Moradin N, Fois A, Vallerand D, De Sa Tavares Russo M, Bassenden A, Lu W, Tam M, Lesage S, Girouard H, Avizonis DZ, Deblois G, Prchal JT, Stevenson M, Berghuis A, Muir T, Rabinowitz J, Vidal SM, Fodil N, Gros P.
Cell Rep. 2020 Sep 22;32(12):108170. doi: 10.1016/j.celrep.2020.108170.
PMID:32966787
Hemolytic anemias and erythrocyte enzymopathies.
Valentine WN, Tanaka KR, Paglia DE.
Ann Intern Med. 1985 Aug;103(2):245-57. doi: 10.7326/0003-4819-103-2-245.
PMID:2990276
Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model.
Chen C, Xie T, Zhang Y, Wang Y, Yu F, Lin L, Zhang W, Brown BC, Zhang X, Kellems RE, D'Alessandro A, Xia Y.
J Am Soc Nephrol. 2023 Oct 1;34(10):1647-1671. doi: 10.1681/ASN.0000000000000195. Epub 2023 Aug 7.
PMID:37725437
Single-cell metabolomics reveals that bisphosphoglycerate mutase influences oocyte maturation through glucose metabolism.
Wang J, Liu Q, Yan Z, Guo Q, Wu Y, Ding L, Liao T, Fan J, Qiao J, Yan L.
Mol Hum Reprod. 2025 Apr 3;31(2):gaaf009. doi: 10.1093/molehr/gaaf009.
PMID:40323314
Study of a kindred with partial deficiency of red cell 2,3-diphosphoglycerate mutase (2,3-DPGM) and compensated hemolysis.
Travis SF, Martinez J, Garvin J Jr, Atwater J, Gillmer P.
Blood. 1978 Jun;51(6):1107-16.
PMID:148301
Metabolic myopathies.
DiMauro S, Miranda AF, Sakoda S, Schon EA, Servidei S, Shanske S, Zeviani M.
Am J Med Genet. 1986 Dec;25(4):635-51. doi: 10.1002/ajmg.1320250406.
PMID:2878616
Congenital and inherited polycythemia.
Kralovics R, Prchal JT.
Curr Opin Pediatr. 2000 Feb;12(1):29-34. doi: 10.1097/00008480-200002000-00006.
PMID:10676771
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