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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
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E.
Br J Haematol. 2001 Feb;112(2):475-82. doi: 10.1046/j.1365-2141.2001.02526.x.
PMID:11167850
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.
Njålsson R, Carlsson K, Winkler A, Larsson A, Norgren S.
Hum Mutat. 2003 Dec;22(6):497. doi: 10.1002/humu.9199.
PMID:14635114
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
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