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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
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
Gss deficiency causes age-related fertility impairment via ROS-triggered ferroptosis in the testes of mice.
Zhu H, Cheng Y, Wang X, Yang X, Liu M, Liu J, Liu S, Wang H, Zhang A, Li R, Ye C, Zhang J, Gao J, Fu X, Wu B.
Cell Death Dis. 2023 Dec 19;14(12):845. doi: 10.1038/s41419-023-06359-x.
PMID:38114454
[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
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
Glutathione synthetase deficiency: a family report.
Pejaver RK, Watson AH.
J R Soc Med. 1994 Mar;87(3):171. doi: 10.1177/014107689408700321.
PMID:8158601
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
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease.
Mohler DN, Majerus PW, Minnich V, Hess CE, Garrick MD.
N Engl J Med. 1970 Dec 3;283(23):1253-7. doi: 10.1056/NEJM197012032832304.
PMID:5476481
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