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名词信息
中 文 名:
谷胱甘肽合成酶缺乏症
英 文 名:
glutathione synthetase deficiency
中文又称:
中文曾称:
名词来源:
所属专业:
血液科
所属类别:
疾病诊断名词
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Pubmed相关的文献
glutathione synthetase deficiency
相关文献:
Glutathione synthetase deficiency.
Njålsson R.
Cell Mol Life Sci. 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7.
PMID:15990954
Glutathione synthetase deficiency: a novel mutation with femur agenesis.
Guney Varal I, Dogan P, Gorukmez O, Dorum S, Akdag A.
Fetal Pediatr Pathol. 2020 Feb;39(1):38-44. doi: 10.1080/15513815.2019.1627627. Epub 2019 Jun 14.
PMID:31198081
Glutathione synthetase deficiency: 10 years later.
Suresh Kumar Bindu BN, Dhamija R, Ferdjallah A.
BMJ Case Rep. 2026 Jan 7;19(1):e269050. doi: 10.1136/bcr-2025-269050.
PMID:41500709
[Glutathione synthetase deficiency].
Iyori H, Hirono A, Kobayashi N, Ishitoya N, Akatsuka J, Kanno H, Fujii H, Miwa S.
Rinsho Ketsueki. 1996 Apr;37(4):329-34.
PMID:8847804
Forging Ahead.
Anklesaria Z, Hunt D, Shah M, Sharpe B, Monash B.
J Hosp Med. 2017 Mar;12(3):188-192. doi: 10.12788/jhm.2706.
PMID:28272598
Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.
Wu X, Jiao J, Xia Y, Yan X, Liu Z, Cao Y, Ma L.
Front Pediatr. 2023 Jul 27;11:1212405. doi: 10.3389/fped.2023.1212405. eCollection 2023.
PMID:37576147
Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency.
Kaur P, Chaudhry C, Panigrahi I, Srivastava P, Kaur A.
Lab Med. 2022 May 5;53(3):e59-e61. doi: 10.1093/labmed/lmab084.
PMID:34791353
Oxidative damage to neutrophils in glutathione synthetase deficiency.
Spielberg SP, Boxer LA, Oliver JM, Allen JM, Schulman JD.
Br J Haematol. 1979 Jun;42(2):215-23. doi: 10.1111/j.1365-2141.1979.tb01126.x.
PMID:465367
Diagnosis of glutathione synthetase deficiency in newborn screening.
Simon E, Vogel M, Fingerhut R, Ristoff E, Mayatepek E, Spiekerkötter U.
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S269-72. doi: 10.1007/s10545-009-1213-x. Epub 2009 Sep 2.
PMID:19728142
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Signolet I, Chenouard R, Oca F, Barth M, Reynier P, Denis MC, Simard G.
Pediatrics. 2016 Sep;138(3):e20154324. doi: 10.1542/peds.2015-4324.
PMID:27581854
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